Fig. 2

Regional Plots for Del13q32.1 (a), Dup7p22.1 (b) and Dup8q24.3 (c). For each CNV, SNP6.0 array intensity data (lower panel), custom aCGH (middle panel) and ENCODE annotations (upper panel) are visualized. The RefSeq genes are shown in SNP array intensity panel with horizontal orange lines for genes in reverse orientation and purple lines in forward. The red horizontal bar represents the prediction of the deleted segment while the blue bars show duplications. a The 15.8 kb deletion at chr13: 94,781,525 - 94,797,285 upstream of ABCC4 and CLDN10. b The 119 kb duplication at chr7:5,786,323-5,905,210 encompasses the entire length of the genes ZNF815 and OCM, and partially overlaps CCZ1 and RNF216. c The 134 kb large duplication at 8q24.3 (chr8:140,390,975-140,524,875) located upstream of KCNK9. An incidence peak (at 140,450 kb) of cis-acting regulatory elements is annotated in the genomic region affected by Duplication