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Table 4 Validation of single nucleotide variants

From: Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data

Sample

rs140952426

rs200757797

Uncut (A)

Cut (G)

Proportion A (95 % CI)

From exome

Uncut (T)

Cut (C)

Proportion T (95 % CI)

From exome

NA07056

60

41

0.59 (0.49-0.69)

AAGG

3

84

0.03 (0.01-0.10)

CCCC

NA12044

4

74

0.05 (0.01-0.13)

GGGG

18

53

0.25 (0.16-0.37)

CCCT

NA18956

44

123

0.26 (0.20-0.34)

AGGG

-

-

-

CCCC

NA12004

37

139

0.21 (0.15-0.28)

AGGG

-

-

-

CCCC

NA12156

13

146

0.08 (0.04-0.14)

AGGGG

-

-

-

CCCCC

NA07357

-

-

-

GGGGGG

5

79

0.06 (0.02-0.13)

CCCCCT

NA12763

-

-

-

GGGG

22

178

0.11 (0.07-0.16)

CCCTa

NA12874

-

-

-

GGGG

16

52

0.23 (0.14-0.35)

CCCT

  1. 95 % confidence intervals of the binomial distribution calculated using the Pearson-Klopper method
  2. aCalled as 6 copies by previous PRT