Fig. 4

Pathogenicity of phenotypically enriched loci (PELs). a Boxplot of the distribution of the number of ClinVar syndromes overlapping PELs. Every boxplot represents the resulting number of PELs in real and permuted data; there is only one value for real data. b Boxplot of the distribution of the number of DECIPHER syndromes overlapping PELs. c Distribution of the PEL lengths overlapping with ClinVar and DECIPHER syndromes, the grey line represent the distribution of the length of the raw patient CNVs from DECIPHER. d Relationship between the PEL length and their number of cases (patients), the colors represent the frequency of the observations. e Relationship between the PEL length and their number of overlapped controls (DGV), the colors represent the frequency of the observations