Variant DetailsVariant: esv19986 Internal ID | 11037220 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 13459 | hg19 | 13459 | hg18 | 13459 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv25631 | Supporting Variants | essv40182, essv51247, essv66852, essv56672, essv36876, essv59879, essv76225, essv58556, essv78877, essv65311, essv42974, essv69877, essv70650, essv77521, essv79965, essv53417, essv38949, essv64152, essv44336 | Samples | NA12489, NA18523, NA11931, NA12828, NA12776, NA19108, NA12044, NA12287, NA12414, NA18508, NA11894, NA11995, NA18916, NA07045, NA06985, NA18909, NA12749, NA12878, NA19240 | Known Genes | FAM66E, USP17L3, USP17L8 | 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) | esv19986
| Frequency | Sample Size | 40 | Observed Gain | 19 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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