Figure 2

Genomic characterization of the PTCHD3 deletion variant. The cytoband and genomic coordinates (NCBI Build 35) are expanded from the chromosome 10 ideogram. The PTCHD3 gene (black), UCSC segmental duplications (grey bars), and Affymetrix 500 K SNP probes (black lines) are also shown. The deletion is denoted by a rectangle with hatched bars showing the sequenced breakpoints. Expansion of the region shows the location of primers (arrows) used for sequencing with the telomeric (red) and centromeric (blue) breakpoint sequences.