Variant DetailsVariant: esv21238 | Internal ID | 11038472 | | Landmark | | | Location Information | | | Cytoband | 22q11.21 | | Allele length | | Assembly | Allele length | | hg38 | 106995 | | hg19 | 106995 | | hg18 | 106995 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv25508 | | Supporting Variants | essv39125, essv47583, essv80555, essv52305, essv71108, essv56706, essv74463, essv55659, essv53061, essv76942, essv46081, essv76122, essv63089, essv49128, essv37757, essv44141, essv69575, essv78687, essv41711, essv33698, essv72959, essv78137, essv37163, essv64371, essv66448, essv50462, essv83645, essv73924, essv57818, essv35490, essv44037, essv40253, essv34435, essv65213, essv61930, essv50725 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18909, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3 | | 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) | esv21238
| | Frequency | | Sample Size | 40 | | Observed Gain | 1 | | Observed Loss | 35 | | Observed Complex | 0 | | Frequency | n/a |
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