Internal ID | 11046405 |
Landmark | |
Location Information | |
Cytoband | 2q37.1 |
Allele length | Assembly | Allele length | hg38 | 394870 | hg19 | 394870 | hg18 | 394870 |
|
Variant Type | CNV loss |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | esv11055, esv20995, esv18000, esv16348 |
Samples | NA18916, NA12287, NA12044, NA18858 |
Known Genes | SP100, SP110, SP140, SP140L |
Method | Oligo aCGH |
Analysis | Segment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls. |
Platform | Sanger H. Sapiens 42mCGH Array 5781_53 726K v1 |
Comments | |
Reference | Conrad_et_al_2009 |
Pubmed ID | 19812545 |
Accession Number(s) | esv29172
|
Frequency | Sample Size | 40 | Observed Gain | 0 | Observed Loss | 4 | Observed Complex | 0 | Frequency | n/a |
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