Variant DetailsVariant: esv16246 | Internal ID | 11380165 | | Landmark | | | Location Information | | | Cytoband | 4q35.1 | | Allele length | | Assembly | Allele length | | hg38 | 11168 | | hg19 | 11168 | | hg18 | 11168 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv22992 | | Supporting Variants | essv70837, essv79241, essv82404, essv76059, essv67057, essv80731, essv51603, essv46911, essv36597, essv53326, essv74903, essv49125, essv49996, essv62904, essv40582, essv66423, essv60450, essv59257, essv54649, essv62025, essv78429, essv57627, essv56762, essv43279, essv41791, essv64187, essv76856, essv39001, essv35004, essv51900, essv35790, essv44098, essv83855, essv67529, essv38264, essv72208, essv45928, essv73513, essv32962 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, 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) | esv16246
| | Frequency | | Sample Size | 40 | | Observed Gain | 39 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
|
