Internal ID | 11041815 |
Landmark | |
Location Information | |
Cytoband | 16q24.2 |
Allele length | Assembly | Allele length | hg38 | 71571 | hg19 | 71571 | hg18 | 71571 |
|
Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | esv19079 |
Samples | NA18861, NA19190, NA07045, NA12239, NA18517 |
Known Genes | CA5A, SLC7A5 |
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) | esv24582
|
Frequency | Sample Size | 40 | Observed Gain | 5 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
|