Skip to main content

Table 2 Summary of the CNV events detected by the four tools in the population data analysis a

From: EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Sample

EXCAVATOR

XHMM

CoNIFER

ExomeCNV

NA10847

8 (6-2)

3 (3-0)

0 (0-0)

125 (122-3)

NA11840

3 (3-0)

2 (2-0)

0 (0-0)

124 (122-2)

NA12249

3 (3-0)

0 (0-0)

0 (0-0)

128 (128-0)

NA12717

6 (6-0)

4 (4-0)

0 (0-0)

113 (113-0)

NA12751

7 (5-2)

2 (2-0)

0 (0-0)

119 (118-1)

NA12760

2 (2-0)

2 (2-0)

0 (0-0)

126 (126-0)

NA12761

4 (2-2)

4 (3-1)

0 (0-0)

206 (173-33)

NA18959

6 (6-0)

2 (1-1)

0 (0-0)

149 (134-15)

NA18966

3 (3-0)

5 (4-1)

0 (0-0)

39 (35-4)

NA18967

5 (5-0)

2 (1-1)

0 (0-0)

21 (21-0)

NA18970

4 (4-0)

3 (3-0)

0 (0-0)

24 (24-0)

NA18973

7 (7-0)

0 (0-0)

0 (0-0)

91 (91-0)

NA18981

5 (4-1)

3 (3-0)

0 (0-0)

100 (99-1)

NA18999

3 (3-0)

2 (2-0)

0 (0-0)

229 (196-33)

NA19131

8 (6-2)

3 (3-0)

2 (1-1)

30 (30-0)

NA19138

5 (5-0)

3 (2-1)

1 (1-0)

48 (46-2)

NA19153

5 (5-0)

3 (1-2)

1 (0-1)

26 (25-1)

NA19159

4 (4-0)

5 (2-3)

2 (0-2)

28 (27-1)

NA19206

6 (5-1)

3 (2-1)

1 (0-1)

35 (33-2)

NA19223

7 (7-0)

4 (3-1)

2 (1-1)

30 (29-1)

Total

101 (91-10)

55 (43-12)

9 (6-3)

1,791 (1,692-99)

  1. aFor each sample, columns show the number of all CNV events (common-rare) identified by each tool.