Sample
|
Chr
|
Event
|
Start
|
End
|
Size (Mb)
|
MLPA validation1
|
---|
CONTROL870
|
2
|
Deletion
|
25,056,172
|
25,570,101
|
513,929
|
Yes
|
CONTROL1210
|
2
|
Deletion
|
25,312,050
|
26,013,444
|
701,394
|
Yes
|
CASE623
|
4
|
Duplication
|
158,590,621
|
159,723,224
|
1,132,603
|
Yes
|
CASE741
|
6
|
Duplication
|
162,534,963
|
163,052,519
|
517,556
|
NA
|
CASE526
|
7
|
Deletion
|
138,459,817
|
139,610,819
|
1,151,002
|
Yes
|
CASE508
|
11
|
Duplication
|
122,663,431
|
123,143,910
|
488,481
|
Yes
|
CONTROL413
|
15
|
Duplication
|
48,349,855
|
48,838,336
|
517,556
|
Yes
|
- The new abnormalities observed were smaller than those previously reported. Figures are available in the Additional File 6 - Figures S5 to S11.
- 1 Additional File 5 (Section 4) shows the MLPA electropherograms and control comparisons.