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Table 1 Peak area ratios unequal 1:1 obtained by CE-LIF assays of indels 3 to 7 using 25 genomic DNAs with known diploid copy numbers (CN)

From: Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23

Diploid CN by MLPA

Peak area ratios short/long

Cluster ratio short/long

Indel no

# of informative tests

3

1.92-2.07

2:1

3,5,6

6

0.50-0.54

1:2

3,4,5,6

6

4

 

1:3

 

---

 

3:1

 

---

5

0.29

1:4

7

1

0.68/0.72

2:3

4,5

2

1.48

3:2

7

1

 

4:1

 

---

6

 

1:5

 

---

0.47-0.58

2:4

4,5,6,7

7

2.00/2.12

4:2

3

2

 

5:1

 

---

7

0.16

1:6

7

1

0.43

2:5

6

1

0.60/0.76

3:4

5,7

2

 

4:3

 

---

 

5:2

 

---

 

6:1

 

---

8

 

1:7

 

---

0.41/0.46

2:6 or 3:5

5,7

2

0.77

3:5

5

1

1.53

5:3

7

1

2.75

6:2

7

1

 

7:1

 

---

Total No of tests, informative for proof of CNV

 

34

  1. Between five and nine DNAs per indel showed peak area ratios unequal 1:1 (Additional file 1: Table S3), resulting in a total of 34 electropherograms proving CNV. Indels 4 to 6 are located between DEFB4 and DEFB107 and therefore confirm CNV already proven by MLPA. Indels 3 and 7 demonstrate CNV outside this region (see Figure 1).