Variant DetailsVariant: esv19854 | Internal ID | 11383773 | | Landmark | | | Location Information | | | Cytoband | 3p24.1 | | Allele length | | Assembly | Allele length | | hg38 | 7188 | | hg19 | 7188 | | hg18 | 7188 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv22184 | | Supporting Variants | essv51555, essv64704, essv48879, essv35816, essv71843, essv82969, essv50046, essv32665, essv44435, essv65330, essv36878, essv47212, essv79858, essv79311, essv40570, essv44000, essv61927, essv62758, essv34870, essv60095, essv52725, essv58183, essv57391, essv53785, essv66882, essv41620, essv70464, essv54248, essv73967, essv56656, essv75563, essv39019 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12156, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA11894, NA12239, NA15510, NA19099, NA19225, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA12006, 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) | esv19854
| | Frequency | | Sample Size | 40 | | Observed Gain | 31 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
|
