Fig. 1

Patient overview for the DLG2. Four tracks are shown representing the data at different granularity levels. The first track, “chr11”, shows chromosome 11 with its cytobands; the rectangular red box indicates the DLG2 location. The second track, “DLG2”, shows genomic coordinates on the top and all unified exons (Additional file 1: Table S1 and Figure S1) at the bottom. The third track, “Patients’ deletions”, shows CNV locations for the 29 patients from DECIPHER, ULB, and the literature; each box represents a deletion carrying three kinds of patient information: i) id, ii) gender, and iii) inheritance type (detailed in Additional file 1: Tables S7–S11). Vertical solid black lines represent exons, while dotted lines highlight histone peaks (HPs) discovered using Roadmap Epigenomics data integration and described in the present work. The fourth track, “Statistics”, summarizes some basic statistics about the patients’ CNVs and clinical characteristics. In the “Inheritance” pie chart, we used the following abbreviations: DNC de novo constitutive, IMH inherited from a healthy mother, IMU inherited from a mother with unknown phenotype, IPH inherited from a healthy parent, IPU inherited from a parent with unknown phenotype, IPA inherited from a parent affected by the same phenotype. NDD neurodevelopmental disorder. All genomics coordinates are in hg19