Variant DetailsVariant: esv14804 Internal ID | 11032038 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 24873 | hg19 | 24873 | hg18 | 24873 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv25631 | Supporting Variants | essv78536, essv64109, essv71551, essv83035, essv62621, essv37240, essv57566, essv44647, essv53105, essv54449, essv78678, essv75697, essv67252, essv40553, essv60685, essv45615, essv80322, essv39610, essv82114, essv43146, essv69323 | Samples | NA12489, NA18523, NA19114, NA12828, NA15510, NA12044, NA12287, NA12414, NA18508, NA11894, NA11995, NA18916, NA19190, NA07045, NA19129, NA06985, NA18909, NA12749, NA19099, NA12878, NA11993 | 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) | esv14804
| Frequency | Sample Size | 40 | Observed Gain | 13 | Observed Loss | 8 | Observed Complex | 0 | Frequency | n/a |
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