Variant DetailsVariant: esv11733 | Internal ID | 11375652 | | Landmark | | | Location Information | | | Cytoband | 2p11.2 | | Allele length | | Assembly | Allele length | | hg38 | 29094 | | hg19 | 29093 | | hg18 | 29093 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv29894 | | Supporting Variants | essv45671, essv55106, essv80566, essv50187, essv72066, essv43398, essv56898, essv40008, essv45107, essv70711, essv53584, essv79517, essv65326, essv52585, essv47917, essv60258, essv77791, essv34979, essv75180, essv51241, essv83739, essv73822, essv82460, essv69633, essv41806, essv32437, essv35428, essv67170, essv61605, essv63661, essv75470, essv38196, essv76995, essv48594, essv58120, essv36776, essv39703, essv68197 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511 | | 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) | esv11733
| | Frequency | | Sample Size | 40 | | Observed Gain | 29 | | Observed Loss | 9 | | Observed Complex | 0 | | Frequency | n/a |
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