Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome

Figure 2

The process of identifying CNV. (a) The red oval indicates the region of deletion detected by targeted NGS. (b) Results of real-time PCR: 1 and 2 indicate copy number; black arrows: primer position; E: exon; left grey arrow: the 3-end; right grey arrow: the 5-end. (c) Grey words: region of deletion; F and R: forward and reverse primer; Ins: insertion. (d) Sequence diagram of 244 bp PCR product. 4 bases between the two black vertical lines were additional insertion.