Variant DetailsVariant: esv15077 Internal ID | 11032311 | Landmark | | Location Information | | Cytoband | 2q13 | Allele length | Assembly | Allele length | hg38 | 39042 | hg19 | 39042 | hg18 | 39042 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv24774 | Supporting Variants | essv42590, essv67799, essv41503, essv66339, essv32543, essv58769, essv38941, essv75820, essv79921, essv57091, essv55467, essv35842, essv56236, essv60724, essv82384, essv79624, essv46013, essv62342, essv61594, essv84110, essv66848, essv37185, essv48334 | Samples | NA11995, NA12414, NA19190, NA12287, NA12828, NA11993, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12776 | Known Genes | DDX11L2, FAM138B, WASH2P | 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) | esv15077
| Frequency | Sample Size | 40 | Observed Gain | 23 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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