marbl / HG002-issues

HG002 human reference genome issue tracking and polishing
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Missed 102 base heterozygous deletion at chr15_MATERNAL:26836841-26836942 #680

Open nhansen opened 5 months ago

nhansen commented 5 months ago

Have you confirmed that this issue hasn't already been reported?

Issue location in assembly (use format chromosome:start-end, e.g., chr13_MATERNAL:3740148-9625296)

chr15_MATERNAL:26836841-26836942

Description of the issue

Long reads mapped to the diploid assembly show the maternal haplotype should have a 102 base pair deletion (with respect to the paternal haplotype) but the assembly has both haplotypes the same. Reads are here:

image

and browser shot showing the error on the left and an upstream heterozygous snp on the right is here:

image