What is a Haplogroup?

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Sometimes we’ve been doing genetic genealogy for so long we forget what it’s like to be new.  I’m reminded, sometimes humorously, by some of the questions I receive.

When I do DNA Reports for clients, each person receives a form to complete with a few questions designed to give them the opportunity to tell me what their testing goals are and to ask any questions they might have.  One woman asked, “Can you tell me about my psychogroup?”

I thought that psychogroup was particularly appropriate for a cluster of genealogists, especially genetic genealogists, but decided I had better let that one go.

Then there was the person who wanted to know about their hologroup.  I wondered if I needed 3D glasses for that one.

Someone else wondered about their helpgroup.  I couldn’t help but think of introducing myself, “Hello, my name is Roberta and I’m a member of haplogroup J.”  Kinda gives new meaning to “what’s your sign?”

Then there was the person who though it was a Biblical reference, Holygroup and wanted to know how they connected to Biblical folks.  Well, we do talk about Y-line Adam and Mitochondrial Eve, so why wouldn’t someone ask that?

My favorite, though is the person who gave this reason for leaving a haplogroup project, “not my glopo.”  Hey, at least they realized that, as opposed to the person who called me a member of the KKK for suggesting that they did not belong in a particular project.  I found that to be particularly humorous, given my ethnic mix, heritage and family.

But today, when my cousin asked me if a haplogroup follows the mitochondrial DNA, I decided it was time to talk about what a haplogroup is, a little history, and why we use them.  And Shanen, thanks for asking!

Think of a haplogroup as an ancestral clan, a large family, like the Celts, or Vikings.  These would be larger than Native American tribes, encompassing members of many tribes.  There are two male Native American haplogroups that include all Native American males.  There are a few more African clans, or haplogroups, but not many.

There are clans for the Y chromosome, which is of course tested by the Y DNA test at Family Tree DNA and generally follows the paternal surname up and down the tree.  Y DNA is passed from father to son, only, through the Y chromosome which only males possess.

There are also clans for mitochondrial DNA, tested by the mtDNA tests at Family Tree DNA, which follows the direct maternal line up your family tree.  This means your mother, her mother, her mother, etc.  Woman give their mitochondrial DNA to all of their offspring, males and females, but only females pass it on.

You can see the Y-line, paternal (blue) and mitochondrial, maternal (red), lines on the pedigree chart below.

adopted pedigree

Companies like 23andMe and the Geno 2.0 project provide haplogroups for both Y-line and mitochondrial DNA, but neither of them test personal mutations that allow you to compare your mutations against those of other people for genealogical matches.  The regular Y-line and mitochondrial tests at Family Tree DNA do that.  In addition, both also provide your haplogroup or clan designation.

A new haplogroup is born when a very specific new mutation occurs.  All descendants will carry that mutation.  That mutation defines that haplogroup.  So if a new haplogroup is born today, we wouldn’t know it was a haplogroup until hundreds or thousands of years later when we see that lots of people have this same mutation from a single individual.  As you might imagine, many haplogroups over the ages have died out, but some have been very successful as evidenced by the fact that we are all here today!  Roughly half of the European men carry Y haplogroup R and mitochondrial haplogroup H is found in nearly 50% of all Europeans – both descending, respectively, from one single person tens of thousands of years ago.

Since all of humanity, both male and female, sprang initially from Africa, the earliest haplogroups were found there.  As some people moved further away and crossed into Asia and Europe, they developed unique mutations that would give rise to the European, Asian and Native American haplogroups we know today.  There are 4 main groupings, African, European, Asian and Native American, but there are several subgroups within most of those main groups, except for Native Americans who only have two male haplogroups.

So in essence, haplogroups are a pedigree chart of the clans of humanity.  Family Tree DNA displays a haplogroup chart with the main haplogroups shown on everyone’s personal page for Y-line DNA.  They were simply named alphabetically with no connection to a word.  So no, A is not A because it’s African, even though it happens to be.  N is not Native American.  E is not European.  You get the drift.  Any resemblance is purely coincidental.

haplogroup 1

Your clan, in this example, haplogroup I, is shown with an arrow.  Every clan, male and female, has subclans, often known as subclades for Y DNA or subgroups for mitochondrial DNA.  To see the various subgroups of I, click on the tab and voila, there they are, the subgroups of haplogroup I.  Yours is the lowest one on the tree that is green, in this case I2b1a1.

Because of the dramatic new number of haplogroups recently discovered, future versions of the haplotree will be moving away from the letter based names like I2b1a1 and will only use the terminal, or lowest branch, SNP to identify a haplogroup.  In this case, that would be L126 or L137 which are equivalent SNPs.  So in the future this person’s haplogroup will be called I-L126 instead of I2b1a1 because L126 will never change, but the name I2b1a1 changes every time a new upstream haplogroup is discovered between the root of haplogroup I and I2b1a1 and needs to be inserted into its proper place in the tree.

haplogroup 2

As we learn more about the subgroups, each one has its own story which is somewhat different than the stories of the other subgroups.  Some are evident, such as Jewish clusters, some not so much.  Each clan story involves how that haplogroup came to be found where it is today.  For example, haplogroup E is African, but within haplogroup E, there are two major divisions with very different stories for their clans.  One group is found only in Sub-Saharan African and one is found mostly in the Middle East and the Mediterranean basin and is known colloquially as the Berber haplogroup.  We’re still learning about subgroups, and with the Geno 2.0 test, the haplotree is growing exponentially.

Family Tree DNA predicts your clan, or haplogroup, with any Y-DNA test as long as you match exactly at 12 markers to someone who has been SNP tested.  SNP testing is what tests for the special haplogroup defining mutations.  If you don’t match, they will SNP test you for free to establish your primary haplogroup.

Many people purchase additional SNP tests to further define their Y haplogroup so that they can learn about where their ancestors were, when, and what they were doing.  For example, we know that SNP M222 equates to Niall of the 9 Hostages in history.  How cool is that to know!

Some years ago, Dr. Doug McDonald assembled this wonderful map of the basic haplogroups of the world. Although we’ve discovered subgroups for each haplogroup, it’s still quite valid.  E3b has since been renamed E1b1b and ExE3b means haplogroup E1b1a.  RxR1 means haplogroup R except R1a and R1b which have their own legend.

haplogroups of the world y

Mitochondrial DNA also has haplogroups, which are clans.  On the drawing below, compliments of Dr. Whit Athey, it’s easier to see how the daughter clans arose, were born, and were named.  Because of the naming pattern, this looks a little less like a pedigree chart and a little more like stars, planets and moons.

atheymitomaporiginal

One difference between Y-line DNA and mitochondrial DNA clans is that although they are all currently named alphabetically, the mitochondrial clans have names.  That is thanks to Dr. Bryan Sykes who wrote the book, “The Seven Daughters of Eve” published in 2001. For example, he named haplogroup H, Helena because Helena is Greek for light.  He told somewhat accurate stories about each clan and although quite scientifically dated now, described the life that each clan would have lived in post-glacial Europe.  This book was the first book about DNA to reach the popular reading public, and was a huge success because he humanized science and normal air-breathing humans could relate.  I ordered my first mitochondrial DNA test through his company and received one page with a Sunday School gold star on the red dot for haplogroup J.

OxfordAncestor0001

I was thrilled at the time, but times have changed a lot.  Due to advances in research and new subclades being defined, thanks in large part to citizen scientists like you, I now know that I’m haplogroup J1c2f as a result of my full sequence mitochondrial DNA test.

Unlike Y-line DNA, no additional SNP test is required to fully determine your mitochondrial DNA haplogroup.  When you take the full mitochondrial sequence test (mtFullSequence) at Family Tree DNA, you receive your most detailed, full haplogroup designation automatically.  With the HVR1 (mtDNA) and HVR2 (mtDNAPlus) tests, you receive at least your base haplogroup.  The full sequence is required to determine your full haplogroup.

To put this in perspective, think of your mitochondrial DNA as a clock face.  There are a total of 16,569 locations in your mitochondrial DNA.  The HVR1 test tests the number of locations from 11:55 to noon and the HVR2 test tests the number of locations between noon and 12:05PM.  The full sequence test tests the rest, the balance of the 50 minutes of the hour.

Family Tree DNA is the only commercial testing company that offers the full sequence test.

haplogroups of the world mt

As more discoveries are made for both male and female haplogroups, the subgroup names sometimes change within the clan or main haplogroup because new branches get inserted in the tree as they are discovered.

For example, from a scientific paper, here’s an early version of the haplogroup H mitochondrial phylotree which is what the haplotree is called for mitochondrial DNA.

Haplogroup H early

Here’s a later version.

haplogroup H later

You wouldn’t even be able to see today’s version, because the print would have to be miniscule to fit it on the page.  In Dr. Behar’s paper, “A ‘Copernican’ Reassessment of the Human Mitochondrial DNA Tree from its Root” published in April 2012, the supplemental material records haplogroup H87.  Most of those subgroups have subgroups of their own, like you can see above, and those that don’t today soon will as new discoveries are made.

Now that you know what a haplogroup is, there’s a lot you can do with both mitochondrial and Y-line DNA results.

Even if you do nothing more, it’s fun to identify your clan.  It’s the only way of extending our genealogy back in time beyond surnames.  For me, to connect my last known maternal ancestor, Elisabetha Mehlheimer, born in or near Goppsmannbuhl, Germany around 1800 to the cave paintings in Chauvet, France created about 12,000 years ago was a magical moment, a reach across time through a tenuous umbilical strand allowing me to identify and touch my 12,000 year-old ancestor.  In my wildest genealogist dreams, I never dreamed this could or would ever be possible and indeed, it wouldn’t be, were it not for the genetic genealogy tools we have today.

chauvet painting

192 thoughts on “What is a Haplogroup?”

  1. Pingback: 800 Articles Strong | DNAeXplained – Genetic Genealogy

      • My question: I did a Maternal Hapolog test with 23andMe which showed H1e. It also showed Broadly Mideastern and North African at 0.8
        I also did a Maternal Hapolog test with Family Tree DNA which showed HV-T16311C. It showed no Broadly Mideastern or North African.
        Both tests showed very strong Italian ancestry, strong Balkan and strong Broadly Southern European although Family Tree associated more BroadlySouthern European with Southeastern European. Both had Iberian in about the same percentage 9 to 9.6. Family Tree also showed 4.O Eastern European while 23andme Me showed no Eastern European.
        My question is which Maternal Hapolog should I identify and what do you think of some ancestral differences ?

        Reply ↓

        • Family Tree DNA is unquestionably the most accurate haplogroup, assuming you did the full sequence test. 23andMe only tests a few locations comparatively and is several versions behind.

          Reply ↓

    • Hi Roberta, I read about you in Copelands book “Lost Family”. I am also J1C2 haven’t uploaded to FTDNA yet but will soon. We may be matches there is quite a bit of endogamy from Indian Woods on my maternal side, thank you for sharing your incredible knowledge ✌🏼 Mary Hall

      Reply ↓

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  4. HI,

    Thank you so much for this great explanation!

    I bought my mum an ancestry dna kit for xmas and am having so much fun learning more about dna, running it through different programs etc.

    The dna kit we did tested autosomal dna. Mum is adopted and we are trying to find out infor on her paternal line as we have a good understanding of the maternal line through contact with bio mum.
    If I purchased the Mt-Dna test which would show mums maternal haplogroup could i then compare her autosomnal reults with Mt-Dna to establish which genes she inherited from her fathers side?

    Also, what exactly did you study to make a career out of dna-geneology?? I am seriously falling in love with this and would love to study further!

    Reply ↓

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  6. Thank you for the information. I have been doing online./ paper-based family research for a year or so and now have about 500 people (confirmed via documentation) on my family tree. However, after getting my 23andme and Ancestry results, I feel more confused than before! There is a lot of new terminology and confusing concepts to learn. My matches on 23andme, Ancestry, Gedmatch, and FTDNA are all different, so I’m not sure what the deal is with that. Anyway, two questions I hope you might be able to answer:

    1. My main goal is to find the origins / birthdate / parents / siblings (if any) / descendants of my (paternal) great-great-great grandfather. 23andme says my paternal haplogroup is R1b1b2a1a2d3a (which I have found is also known as R-L20). Can I say with confidence that my (paternal) great-great-great grandfather also had this exact same haplogroup / haplogroup name? Or might he have been some earlier version (e.g. R1b1b2a1a2d)? Apologies If this is a stupid question.

    2. My father will also have his DNA tested by the same two companies. As he is closer to and shares more DNA with my g-g-g grandfather, should I expect better results? Is there a recommended approach I should take in my research? And, finally, as he will have the tests done, is there any benefit for me to take a “Y” test (or would it be redundant as my father will have taken the tests)?

    Any information at all would be appreciated.

    Reply ↓

    • Your Y DNA and that of your father should be the same, except perhaps for a mutation, if one happened. The haplogroup won’t change as you go back in time.

      Different people test at different companies, so most people’s matches are mostly different.

      Reply ↓

      • Thanks, Roberta. 23andme recently updated their reports and now lists my paternal haplogroup as R-L20. However, I recently got my FamilyTreeDNA Big Y results, which list my paternal haplogroup as R-M269. Which one do you think is more accurate?

        Reply ↓

      • Sorry, Y-DNA111, not Big Y.
        As I mentioned above, 23andme originally listed my paternal haplogroup as R1b1b2a1a2d3a. Later, they updated their algorithm / reports and now they list it as R-L20. My dad got his done at 23andme recently and it says his is R-L20 as well. Our detailed reports there list R-L20 as up to 8000 years ago and R-M269 as 10,000 years ago.
        I recently got my Y-DNA111 results at FamilyTreeDNA and it says “Your Predicted Haplogroup is R-M269”. Is there a way to confirm my haplogroup is R-L20 from my Y-DNA111 results?

        Reply ↓

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  9. Only a weeks ago, i saw “Your Genius Matches” on my Cousin’s Geno 2.0 NG’s Dashboard, but my “old” Geno 2.0 did’n say anything about me. It seems when his Geno NG “Helix” used his Uniparental DNA Y DNA and mtDNA (Did they need his Autosomal DNA?) to seek his common ancestors with a Famous People like Abraham Lincoln, Mother Teresa, Nicholas Copernicus, Genghis Khan, etc. “Eva Longoria seems to have a common ancestors with Yo yo ma?” Unfortunately, today The National Geographic don’t sales Their Genographic Project DNA Kit to Indonesia. Perhaps, i see nothing about my “Genius Matches” forever. 🙁

    Reply ↓

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  11. I had the full sequence mtDNA test done and am haplogroup U5a2b. I had only 13 matches and only 4 of these were with a genetic distance of 1, one at a genetic distance of 2 and the rest at genetic distance of 3. As I understand it, even a genetic distance of 1 indicates something like 10,000 years to a common ancestor. Is that correct? How meaningful is this info? I don’t understand what I can do with it. I’ve had DNA done through Ancestry and planning to have the Family Finder test done. My earliest known maternal ancestor was from Czechlovakia, born in 1826.
    Thanks. I really enjoy reading your posts.

    Reply ↓

  12. My FTDNA FF MyOrigins 2.0 results was 73% Southeast Asia + 26% Northeast Asia and <= 1% Siberian. This is quite enough to explain about My Ethnic Group (Southeast Asian / Northeast Asian, etc) with my physical appearance to the people around me? I get depressed about this things…….Honestly.

    Reply ↓

  13. Can someone explain to me how 23andMe said my father is 86% west african but has a year Haplogroup that originated in East china? Like, china, japan, taiwan, Mongolia etc. They also said his Haplogroup of OM stretched down to the Melanesian countries however he rested 0.0% for all Asian and Oceanian DNA…….#confused.

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  14. My question is why do geneticist, throw in subclade like M7, N5, M117, M130 and etc into the Y SNP? This kind of labeling is popular among Asian SNP. By using M into subclade it made it confusing, example O3a3b M7, M7 has nothing to do with MTNDA M7. Another Exampel O-N5, N5 has nothing to do with MTDNA N5 doing this? It just made it confusing, we should consider changing how we label things.

    Reply ↓

  15. I really don’t understand why some Asians like China, Indonesia,…. mtDNA Hg R11, B, R9, F, P and almost all of European – Middle Eastern mtDNA Hg HV, H, V, JT, J, T, U – K share an ancient ancestors together, an mtDNA Hg R? I think the majorities of Asians were descendants of Haplogroup M*, M2 – M11. My Father’s Maternal Line belongs to Haplogroup M7c1c3 and i belongs to Haplogroup B4c.

    Reply ↓

  16. Hi,

    I’m a 35 year old female and my parents are 64. I was contacted by a man on 23andMe who is 59 years old named Jay, who was adopted in a Brooklyn hospital and is looking for his birth family. He said his birth mother’s records show that she had two boys who are about 10 years older than he is, who she did not put up for adoption. So there’s a chance those brothers are still alive and he may be able to find them. My guess is the they’re related to me… Jay shares BOTH my maternal and paternal haplogroups, exactly. He’s not a brother or sister because my parents were 5 when he was born. I’m thinking this is VERY uncommon to share both sides. Can someone help me figure out if this is very unusual or if it’s possible for this to happen a lot?

    Thank you!

    Reply ↓

  17. I was adopted and have no info of any males I might be related to . No father to test or brother . I was told my father was Mexican or possibly Italian . How can I find out .

    Reply ↓

  18. Hello Roberta, I’ve read about your Ydna customized reports you offer and I may be interested. Can you pls tell me how that compares to the FTDNA BigY test? I realise that you won’t be testing for additional markers which is what the BigY does so apart from that your report costs approx a couple hundred less. My father has completed the Y-67 test and I’m interested in trying to further refine his (confirmed by backbone test) K-M9 Ydna haplogroup. I just don’t know whether the BigY will refine his haplogroup further and I’m very hesitant to spend that kind of money and get back a whole lot of results I have no way of understanding as well as an unchanged haplogroup. Thank you 🙂

    Reply ↓

    • The reports are for people who either need assistance in understanding how to put the various pieces together that are received from Family Tree DNA, or someone who wants a heritage report. Many are given as gifts. Haplogroup K is extremely rare. I would recommend the Big Y because it’s likely that he will not only find more refined haplogroups, but may find SNPs never before discovered. It’s a test of discovery and the only way to discover unique mutations at the SNP level. This article may help: https://dna-explained.com/2017/11/17/why-the-big-y-test/

      Reply ↓

      • Thank you Roberta I really appreciate the advice. I will go for the high test for my Dad then. Thanks again!😊

        Reply ↓

  19. Thank you Roberta for all of your efforts with answering questions here for those of us trying to wend our way through this very exciting labyrinth of our DNA results.

    Question: My husband’s FTDNA Y haplogroup (37 markers) test results as J-M172 (also known as J2-M172). My Full Spectrum MtDNA (FTDNA) is J2b1a1. I was curious to know if I should consider his Y “J” as being that as the same of my X “J”. I guess I thought he would come up as “R” as the common Y European halplogroup–albeit I would have guessed J as his father is from Spain. It just seems to be fun to have us both share DNA within the J and even J2 haplogroups. It is the same, correct? J is J whether we speak of the Y or the X? (I get confused as “R” is never represented as an X haplogroup. I mean to ask is the X “J” from Jasmine the same as the Y “J”?)

    We wait for my husband’s mother’s full spectrum mitochondrial results from FTDNA–she is of SA indigenous origin, plus of course any Spanish that got through. For me, I am trying to cajole one of my two brother’s for their Y DNA–Will I do just as well to receive my brother’s son’s (my more complying nephew) DNA? It sure would be interesting to see if my dad’s Y haplogroup through my brother’s or their sons show up also in the Y “J” haplogroup similar to my husband’s as too my father’s line is Iberian. I could be a double “J”!
    Apologies for the perhaps lame questions. Glad to have you in my J group.

    Reply ↓

  20. I just got my ancestry DNA results back and I am 46% Scandinavian and 40% Great Britain and 6% Europe West. I took that and found my haplogroup I think to be D2a1b2. I cant figure out where to find what that means?

    Reply ↓

  21. thank you so much explaining what haplogroup is I was so confused when I got my DNA results but at least I know what clan am in. But I would love to know more thank you

    Reply ↓

  22. Hello, Roberta. When the fist commercial DNA appeared (DNA Ancestry Project) I had my DNA analyzed. My mtDNA produced J1c, which after other tests were done has progressed to J1c16 (this last progression was NatGeo Genograhic 2.0). 23 & Me confirms the J1c, as do 2 other labs. Genographic and FTDNA were partnered for transfer of autosomal data from NatGeo to FTDNA which I did. I did not request mtDNA or the HVR codes because that had been performed by the DNA Ancestry Project. As an interlude-but an important one- Crick & Watson were my heroes since late 1950s, so DNA I are not strangers to one another. I have a broad background in medicine, biology, and other disciplines and understand phylogenic trees and their branches… So imagine how amazed I was when FTDNA announced that my mtDNA Haplogroup was …. R2’JT… I called them only to be treated like a child with ‘our analysis is correct on the basis of blah blah blah… ‘ I told them that I never asked for or ordered an mtDNA test, nor did I pay for one … they just insisted they were correct because of their database (database? what has a database to do with my maternal ancestors’ Haplogroup progression? That is rhetorical, by the way..) I then phoned NatGeo and confirmed that the Haplogroup provided by Genographics was correct and that all FTDNA had received from them was the autosomal data and nothing else. I recalled FTDNA and went through the whole process again ending with this: ‘The reason I am now in 7 separate data bases is to match with my sibling from whom I have been separated since late 1947 to early 1948, should she decide to be tested; and if our Haplogroup does not match, we will not be matched….’ For obvious reasons, I am not fond of FTDNA-just happy that I never paid any money for their services. In law there is something known as preponderance of evidence-like if 5 labs (one does not do mtDNA) say J1, J1c, or J1c16 and the hold out #6 says something much different, evidence from lab #6 will be dismissed for just cause.
    My sister may not even know that she is an adoptee. She was about 7 mos old when we were abandoned by parents, and I am the one with the memories and the chutzpah to never take no for an answer when ethics says that real answer is yes.
    What would you council in this situation? Labs are made up of humans, and humans are not infallible. I worry that my unsuspecting sister and I could be mismatched and will not know… she doesn’t even know that I exist.
    Thank you for the time you have taken to read this. I have enjoyed reading your postings in an intelligent articulate way.

    Reply ↓

    • I can’t unravel this from your message alone, nor do I know what happened. Here is what I do know. Of al of those labs, the only doing Sanger sequencing is FTDNA. They are the only one doing full sequence testing that actually shows all of your mutations, not just a few that may be or may not be haplogroup defining.

      Also, be aware that FTDNA recently moved to V17 which changed about 20% of the haplogroups.

      So, if you’re actually concerned about matching with your sister, by all means, purchase the full sequence test at FTDNA.

      And be sure you are in all of the autosomal data bases.

      Reply ↓

  23. My husband and I have identical maternal haplogroups K1a4a1. What does this mean? Are we of the same clan, more recently related?

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  24. I took a Y-DNA 37 test. My result showed R.M. 269, I showed one match showing R. Z . 34. I do not understand our relationship.

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  25. I just completed my Big 500 and I asked the question of why they didn’t retest for ALL 560 markers? instead they just add to what they tested before. I did the 67 and 111 prior to the 500. I explained that they are missing a golden opportunity to show if a mutation has occurred from the previous testing. You don’t have to wait hundreds or thousands of years if the the testing is done sequentially and completely with following generations. That would pinpoint when a mutation had occurred and what the possible cause might be.

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    • The mutation wouldn’t show in your cheek sample. It occurs in the reproduction process. Your cheek or saliva only shows what you inherited. Only semen would show a mutation.

      Reply ↓

  26. I AM A BRECONSHIRE WILLIAMS AND LEGEND HAS IT THAT THE FAMILY WILLIAMS IS DESCENDED FROM THE 5TH CENTURY KING BRYCHAN BRYCHEINIOG BORN IRELAND c AD 419. BRYCHEINIOG IN ENGLISH IS BRECKNOCSHIRE,OR BRECKONSHIRE. ? HOW WOULD I GO ABOUT PROVING MY RELATIONSHIP.

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  27. So question here, if my great grandfather on my mothers side was native american. But all mothers line was from Ireland along with my father’s side. Will any dna test show native American ?

    Reply ↓

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  32. My son has the same Haplo group on both the Maternal and Paternal, is this common and what does it tell you?

    Reply ↓

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  34. I was recently tested R1a (R-Z280; Y-DNA) / J1 (without stating any subgroups; mtDNA) by Living DNA. They told me that J1 was quite popular amongst Polish gypsies, but haplogroup J is also quite common amongst autochthonous Britons (including Scots, Welsh, and Irish). Does that mean that J1 also appears on the British isles, or does “haplogroup J” only mean the basal J without J1, J2, and so on?

    Reply ↓

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