CNV detected by WES. CNV throughout the chromosomes – 1p13.3, 4q13.2, 5q35.3, 8p23.1, and 19q13.4 have distinct CNVs (14q32.3 is distinct, but contains variable regions associated with antibody production) (A), 8p23.1 containing beta-defensin clusters (B), and 1p13.1 containing GSTM1 (C) of eight subjects. Red and green dots are exons with p<0.05. Co-segregated regions of CNVs were also analyzed by Fisher’s exact test (D).
Park et al. BMC Genomics 2013 14:191 doi:10.1186/1471-2164-14-191