Fig. 3
From: Identification of rare de novo epigenetic variations in congenital disorders

Detection of rare CNVs by targeted sequencing of epivariations and their flanks. Proband 121 carries a maternally inherited DMR at the PDCD2 locus. We identified a maternally inherited heterozygous 4061 bp deletion flanking the DMR. Two other similar examples are shown in Supplementary Fig. 6