Fig. 3

Extent and overlapping regions of duplications in five families. A. Schematic diagram showing detected duplications, 600 bp core hECR sequences, and CNVs in the database of genomic variants. The blue line highlights the ECR region. B. Chromatogram of the breakpoint junctions in F1 and F2. C. A series of qPCR assays detected the extent of duplications in F3, F4 and F5