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Table 4 Number of heteroplasmic and homoplasmic variants within blood and LCL samples, sorted by heteroplasmic fraction

From: Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

Heteroplasmic Fraction

N. of Variant Positions in Blood Samples

N. of Variant Positions in LCL Samples

< 0.10

24

69

0.11-0.20

14

28

0.21-0.30

9

10

0.31-0.40

10

19

0.41-0.50

28

27

0.51-0.60

22

19

0.61-0.70

18

13

0.71-0.80

43

18

0.81-0.90

80

42

0.91-0.99

212

238

1.00

1362

1272

  1. A clear enrichment in very low-level heteroplasmic variant positions within the whole LCL dataset (69 vs 24 in blood samples) may be observed.