FIG. 2.

2p21 deletion including SIX2. A: Schematization of the 108.3 kb chromosome 2p21 deletion (blue dashed lines) encompassing the SIX2 gene (blue) and surrounding noncoding DNA. The SIX3 gene (green) is proximal to and not included in the deletion. B: Log ratio and B-allele frequencies depicted across the deletion. C: Regulatory elements within the deletion (chr2:45,189,763–45,298,085; hg19) depicted using UCSC genome browser (genome.ucsc.edu), including ENCODE regulatory elements predicted by H3K27Ac marks, DNAse hypersensitivity, and conservation in mammalian, vertebrate, and invertebrate species. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]