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Table 3 DEFB cluster copy numbers (CN) per diploid genome of NA12760 estimated by the ratio of reads per haplotype

From: Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing

region/gene

reads

read numbers with different haplotypes

read ratio

CN

DEFB4

51

17:34

1:2 (3n)

6

 

89

16:62:11

1:4:1

6

down

45

10:26:9

1:3:1

5

stream

35

11:14:4:6

2:3:1:1

7

DEFB103

102

25:12:19:13:12:21

2:1:1:1:1:2

8

 

33

8:6:11:8

1:1:2:1

5

 

64

9:8:47

1:1:4

6

SPAG11

38

15:23

2:3

5

 

60

29:16:15

2:1:1

4

 

100

50:16:34

3:1:2

6

 

42

7:12:15:8

1:2:2:1

6

 

63

22:11:12:18

2:1:1:2

6

 

54

20:27:7

3:4:1

8

 

37

20:10:7

3:2:1

6

 

35

19:16

1:1 (2n)

6

 

48

14:21:13

2:3:2

7

 

30

4:21:5

1:5:1

7

 

32

8:14:10

2:3:2

7

 

48

7:22:19

1:3:3

7

 

48

9:20:6:13

1:2:1:1

5

 

62

13:18:13:7:11

2:2:2:1:1

8

 

34

6:13:15

1:2:3

6

 

33

12:21

1:2 (3n)

6

 

40

6:8:26

1:1:4

6

 

33

3:4:21:5

1:1:4:1

7

 

53

12:33:8

1:3:1

5

DEFB104

36

17:7:12

3:1:2

6

 

37

14:16:7

2:2:1

5

 

53

10:17:17:9

1:2:2:1

6

 

32

20:12

2:1 (3n)

6

 

30

13:10:7

3:2:1

6

 

30

14:6:6:4

3:1:1:1

6

 

86

63:26

3:1

4

 

62

6:8:21:27

1:1:3:3

8

 

65

13:23:15:14

1:2:1:1

5

 

31

6:6:6:5:8

1:1:1:1:2

6

 

38

10:10:5:3:10

2:2:1:1:2

8

 

29

6:7:16

1:1:3

5

 

31

9:14:8

2:3:2

7

 

33

6:27

1:5

6

DEFB106

100

32:12:18:38

2:1:1:2

6

 

77

21:13:31:12

2:1:3:1

7

 

30

8:22

1:3 (4n)

8

 

63

20:8:22:13

2:1:2:1

6

 

61

17:6:24:14

2:1:3:2

8

 

39

7:5:27

1:1:4

6

DEFB107

28

5:5:5:13

1:1:1:3

6

 

97

78:19

4:1

5

   

total number of reads

2.397

   

total number of CN estimations

48

   

CN per diploid genome - average

6,17

   

- max

8

   

- min

4

   

- STDEV

1,06