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. 2021 Jul 7;108(8):1423–1435. doi: 10.1016/j.ajhg.2021.06.001

Figure 1.

Figure 1

Example of a deletion

Illustration of a recurrent likely heterozygous deletion in MDS spanning TET2 in sample 19.

(A) CNV microarray profile showing the log2 ratios of the TET2 deletion on chromosome 4 (log2 of 0 refers to copy number 2 and log2 −0.5 refers to copy number 1 for events present in 100% of the cells).

(B) Circos plot of chromosome 4. The TET2 deletion is called both by the CNV tool (blue arrow) and the SV tool (orange arrow).

(C) Genome map view showing the TET2 deletion. Upper track, CNV track (CN, indicating normalized copy number state); lower track: SV track; green bar with small vertical lines, reference genome map with labels; blue bar with small vertical lines, samples genome map with labels.