FIG. 3.

Visualization of the 2.2 Mb deletion in patient 1 at 17q23.1–23.2 that includes T-box 2 (TBX2) and TBX4, exported from the Illumina Genome Viewer. The top panel depicts B-allele frequency (ratio of minor to major alleles) and the bottom panel depicts the logR ratio data (signal intensity). Tracks provided by Illumina show cytobands, CpG islands and the location of SNPs on the array. Custom tracks were created to display the location targeted by copy number assays used to validate CNVs (“CN probes”), and copy number losses (“DGV Deletions,” shown in red) and gains (“DGV Duplications,” shown in blue), both of which were downloaded from the DGV2 database (2014-10-16 version). A subset of genes/transcripts overlapping CNVs are listed below the panels. Genes mentioned in the tables/text are in red. CNV calls made using the pennCNV algorithm are highlighted (heterozygous deletions in orange and duplications are in blue). hg19 coordinates shown. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga].