Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

Table 2 The average read depth, 20X and 50X coverage, and the total number of CNVs detected per sample

Patient No	Test	Average Read Depth	20X Covarage %	50X Covarage %	Total number of CNVs detected
1	CES	80X	98	84	11
2	WES	78X	98	82	85
3	CES	88X	98	88	7
4	WES	118X	99	96	92
5	CES	186X	99	98	4
6	CES	102X	99	92	9
7	WES	117X	99	95	88
8	WES	41X	91	27	81
9	WES	109X	99	95	84
10	CES	56X	96	60	18
11	WES	84X	99	86	114
12	WES	77X	98	80	96

ISSN: 1755-8794