Variant DetailsVariant: esv19209 Internal ID | 11036443 | Landmark | | Location Information | | Cytoband | 20p12.2 | Allele length | Assembly | Allele length | hg38 | 1470 | hg19 | 1470 | hg18 | 1470 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv23892 | Supporting Variants | essv52262, essv70114, essv75048, essv60452, essv68788, essv58674, essv42089, essv78531, essv82288, essv57427 | Samples | NA12004, NA18916, NA11993, NA19114, NA06985, NA18523, NA18858, NA19108, NA18505, NA12006 | Known Genes | PLCB4 | 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) | esv19209
| Frequency | Sample Size | 40 | Observed Gain | 10 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
|
|