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Table 2 Haplotype based estimation of gene and cluster copy numbers

From: Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

Haplotypes

SNP 1

Proband

DEFB104

1

2

3

4

 

1

2

3

4

1

C

A

A

T

 

50

19

-

5

2

G

A

A

T

 

-

-

16

-

3

G

A

G

C

 

15

18

32

9

4

G

G

G

C

 

65

10

16

58

5

G

A

A

C

 

-

-

14

-

 

Ratios of single haplotypes

3:1:4

2:2:1

1:2:1:1

1:1:6

 

Minimal gene copy number

8

5

5

8

DEFB4

5

6

7

8

9

1

2

3

4

1

C

C

C

G

A

14

-

8

-

2

C

T

G

G

A

-

17

9

5

3

T

C

C

A

G

8

-

8

-

4

T

C

C

G

G

24

68

11

30

 

Ratios of single haplotypes

2:1:3

1:4

1:1:1:1

1:6

 

Minimal Gene copy number

6

5

4

7

 

Minimal DEF cluster b copy number

8

5

5

8

  1. 1 SNP1: ss28489415, 2: rs2680507 = rs11774031, 3: ss28489416, 4: rs4259430, 5: rs2740090, 6: rs2740091, 7: rs2737912, 8: rs2737913, 9: rs2737531.