Variant DetailsVariant: esv11120Internal ID | 11028354 | Landmark | | Location Information | | Cytoband | 17p11.2 | Allele length | Assembly | Allele length | hg38 | 213031 | hg19 | 213031 | hg18 | 212899 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv25927 | Supporting Variants | essv80037, essv34771, essv76893, essv33413, essv39936, essv64021, essv53280, essv67185, essv47662, essv50409, essv57986, essv77622 | Samples | NA18502, NA11995, NA18861, NA18508, NA12287, NA12828, NA07045, NA06985, NA19108, NA19147, NA18517, NA18511 | Known Genes | EPN2, GRAP, GRAPL | 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) | esv11120
| Frequency | Sample Size | 40 | Observed Gain | 8 | Observed Loss | 4 | Observed Complex | 0 | Frequency | n/a |
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