[chr3:139976414-139976414][BND][JoinedTo=chr13:114353243]]

[jzook]

chr3 139976414 Minda_96 N N]chr13:114353243] . PASS SVLEN=-1;SVTYPE=BND;SUPP_VEC=ILL_MantaBND:2:46148:55281:0:1:0:1,PB_r_90_0,ONT_r_77_0,ILL_gridss63ff_2860h,PB_severus_BND1941_1,ONT_severus_BND2144_1,PB_ID_52768_2,ONT_ID_11910_2,ILL_365365610:2

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr3:139976414#ribbon

[jmcdani]

Also see Issue #167

Appears to be inter-chromosomal translocation with chr13 (approx 28kb region) coverage of chr3 prior to translocation ~200, then drops to ~100X at join with chr13 This region of chr3 is inverted then joins to chr13 , issue 167 also shown

Ribbon shows translocation only adjacent to inverted chr3 from issue #167

Occurs on one haplotype Approx half of reads map to chr3 other half has supplementary alignments to chr13. Assembly also shows translocation on one haplotype.

Breakpoint appears correct Left breakpoint has 1 bp homology with right, "A". Left aligning breakpoint appears to be correct.

right end of translocated region is the left breakpoint of issue #167, position 139998693