Variant DetailsVariant: esv23873 | Internal ID | 11041106 | | Landmark | | | Location Information | | | Cytoband | 14q11.1 | | Allele length | | Assembly | Allele length | | hg38 | 1733412 | | hg19 | 1425094 | | hg18 | 1424934 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv13786, esv11374, esv19513, esv20090, esv15214, esv16177, esv14355, esv13399, esv17348, esv19593, esv15155, esv14995, esv12353, esv15194, esv14974, esv13730, esv15791, esv15029, esv10429, esv16766, esv12350, esv11201, esv12141, esv13619, esv13270, esv18240, esv19840, esv10811, esv12139, esv20249, esv15358, esv17878, esv20053, esv18942, esv21101, esv12581, esv12476 | | Samples | NA18502, NA11995, NA18861, NA18508, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776 | | Known Genes | BMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM | | 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) | esv23873
| | Frequency | | Sample Size | 40 | | Observed Gain | 29 | | Observed Loss | 34 | | Observed Complex | 0 | | Frequency | n/a |
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