Variant DetailsVariant: esv22113 Internal ID | 11039346 | Landmark | | Location Information | | Cytoband | 5q13.2 | Allele length | Assembly | Allele length | hg38 | 1832583 | hg19 | 1832583 | hg18 | 1832583 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv11774, esv9822, esv21247, esv10644, esv14846, esv13002, esv18024, esv16122, esv21413, esv12092, esv10572, esv17525, esv12170, esv19032, esv16969, esv17424, esv10489, esv9811, esv19631, esv21372, esv18751, esv11562, esv16697, esv19842, esv13502, esv11749, esv20714, esv21096, esv20207, esv16061, esv18523, esv19955, esv13923, esv16040, esv17378, esv17701, esv10708, esv18486, esv11389, esv14782, esv19217, esv20698, esv20041, esv20827, esv21405, esv17729, esv11712, esv14529, esv21364, esv17546, esv14968, esv10675, esv17253, esv17076, esv20684, esv17531, esv21154, esv16733, esv15058, esv16414, esv18421, esv13648, esv14795, esv18930, esv20437, esv10440, esv17258, esv17372 | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, 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 | GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2 | 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) | esv22113
| Frequency | Sample Size | 40 | Observed Gain | 40 | Observed Loss | 12 | Observed Complex | 0 | Frequency | n/a |
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