Figure 2.

Detection and phasing of a 55‐base pair exonic deletion in S5. The coverage track, with eight SNVs highlighted, and a selection of reads are shown, over exons 9 and 10 (chr1:155,204,981–155,205,661; NGMLR alignment). The deletion is clearly visible as a drop in coverage (red bracket). Reads are grouped and colored by haplotype for these variants, which are all on the blue‐colored reads. The arrows point to the SNVs (red = coding, blue = noncoding) and the red box to the deletion. GenBank reference sequence NM_000157.3