Open jzook opened 1 month ago
Appears to be a apart of a relatively complex rearrangement. Related / overlaps with #266
Zoomed-out signature of coverage suggests a duplication-like event, but the read alignment orientation disagrees with such simplistic discription.
Left breakpoint is exact across all technologies and assmebly and is at chr17:32,305,444
The rearrangement only affect one haplotype, as the overall region is an LOH (see haplotype-specific HP2 insertion in normal and all-read supporting insertion in tumor).
Right breakpoint of this junction appears to be exact at chr17:32,673,230.
chr17 32305444 Minda_53 N N]chr17:32673230] . PASS SVLEN=367786;SVTYPE=BND;SUPP_VEC=PB_severus_INV2749,ONT_severus_INV3110,PB_ID_32705_2,PB_r_168_1,PB_Sniffles2.INV.1C7M10,ONT_ID_61071_2,ONT_r_103_1,ONT_Sniffles2.INV.1FBM10,ILL_3070698818:2,ILL_gridss252bb_1931h,ILL_MantaBND:32460:1:2:0:0:0:0
https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr17:32305444#ribbon