Missed 102 base heterozygous deletion at chr15_MATERNAL:26836841-26836942 #680
Labels
large_error
This issue describes a poor quality or misassembled region in the assembly
v1.0
This is an issue/error in the hg002v1.0 assembly
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:
and browser shot showing the error on the left and an upstream heterozygous snp on the right is here:
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