marbl/HG002-issues

Issue: chr10_MATERNAL:122420994-122420996

Closed this issue · 1 comments

Assembly Region

chr10_MATERNAL:122420994-122420996

Assembly Version

v0.7

DeepVariant Call

chr10_MATERNAL 122420994 chr10_MATERNAL_122420994_TAC_T;chr10_MATERNAL_122420994_TACACACACACACACAC_T;chr10_MATERNAL_122420994_T_TACACAC TAC T 46 . AF=0.333333;AQ=46 GT:AD:DP:GQ:PL 0/1:10,23:35:45:46,0,51 0/0:5,0:21:26:26,990,990 1/0:5,12:28:39:55,42,50

Screenshot 2023-06-19 at 6 02 49 PM

HG002 HET for 2 base deletion and reference. Supported by both Onso and Element.
HG003 HET for 6 base insertion and reference. Supported by Onso.
HG004 HET for 2 base deletion and reference. Supported by Onso.

Conclusion. This appears to be an issue with the assembly.