Figure 3

A contiguous deletion involvingEPCAMandMSH2as seen in both microarray CGH (A) and NGS LR (B) views. In the case of the microarray CGH plot the data are on a log₂ scale with wild-type dosage at 0 on the Y-axis. In the case of the NGS dosage plot, the data are on a linear scale with wild-type dosage at 2 on the Y-axis. In both cases, a summary overview is available (top) as well as a zoomed in (bottom) view showing specific probe or amplicon placement. In the summary view, all genes are shown simultaneously with a symbol representing each gene, and exons proceeding 5’ to 3’ across the X-axis. Note that EPCAM exons 2–3 are also included in the microarray CGH assay for normalization purposes but are not tested on the NGS LR assay. NGS LR, next generation sequencing large rearrangements.