Variant DetailsVariant: esv12142 Internal ID | 11029376 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 66479 | hg19 | 66479 | hg18 | 66479 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv25631 | Supporting Variants | essv62963, essv71786 | Samples | NA15510, NA19225 | Known Genes | DEFB109P1B, 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) | esv12142
| Frequency | Sample Size | 40 | Observed Gain | 2 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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