Fig. 2

Haplotype-specific intra-chromosomal contacts of chromosome 22q. a Contacts within each homologous chromosome 22q for patients (ID00014 and ID00016) and controls (GM12878 and GM12892) at 200 kbp resolution. The chromosome 22q with 22q11.2 deletion is shown on the left for the two patient cell lines. Intensity of contacts is represented by a scale from 0 (white) to 5 (deep red). The gap in signal for the region from 39 to 42 Mbp in ID00016 is caused by a very low density of heterozygous SNVs. b Zoomed-in view of the regions in black boxes in a. The color scale goes from 0 (white) to 10 (red)