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. 2014 Feb 19;7:93. doi: 10.1186/1756-0500-7-93

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)

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

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).