Variant DetailsVariant: esv19601 | Internal ID | 11383520 | | Landmark | | | Location Information | | | Cytoband | 11q11 | | Allele length | | Assembly | Allele length | | hg38 | 8084 | | hg19 | 8086 | | hg18 | 8086 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv27386 | | Supporting Variants | essv48859, essv37263, essv54287, essv47643, essv38649, essv69456, essv58171, essv78955, essv75381, essv33838, essv65841, essv57689, essv84151, essv67280, essv40500, essv38940, essv41386, essv45281, essv77604, essv81460, essv56283, essv74776, essv71816, essv36211, essv76758, essv61368, essv52806, essv64438, essv79964, essv49484, essv43113 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA12287, NA12044, NA12828, NA11993, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA19099, NA19257, NA19225, NA06985, NA18909, NA19108, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA18511, NA12776 | | Known Genes | | | 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) | esv19601
| | Frequency | | Sample Size | 40 | | Observed Gain | 31 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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