View Full Version : Defining marker for R-M12462 / R-YP1702

11-29-2017, 01:58 PM
I'm trying to understand to Big Y results of kit # 383275 and I found one mutation that is probably on the tree - but different way by YFull and by FTDNA.

On FTDNA tree, tere tree looks like: R-P278 -> R-M12462 -> R-YP1702
The defining mutation for R-M12462 is
20571223 T C M12462 YP5801

On YFull tree, the tree looks like R-P278.2 -> R-YP1702
there are 2 mutations in this branch, YP1702 and:
20571221 CAT CCT Y6670

I don't understand why hit is not defined as
20571222 A C A19360

In this area are more mutations defined:
20571222 A del FGC54587 - but length 2 bp!

In the variants.vcf file I see 2 mutations in this area:
chrY 20571222 . A C (2A, 96C)
chrY 20571224 . TT T (6TT, 99T)

In 383275_BigY_Data_20171128.csv file I see:
"Novel Variant","20571222","","","","A","C","High"

Surprisingly M12462 is missing at all.

The FTDNA chromosome browser shows me for 383275
Reference: 20571221 CATTT
Genotype: 20571221 CCTTd

This means Y6670+ and A19360+

But what about the M12462/YP5801 marker?
It looks like it counts with different alignment:
Reference: 20571221 CATTT
Genotype: 20571221 CdCTT
and this would mean M12462+/YP5801+ and FGC54587+


This is from YFull R1a group, starting position 20571220 (hg38):