Variant DetailsVariant: esv23292 Internal ID | 11040525 | Landmark | | Location Information | | Cytoband | 1p21.1 | Allele length | Assembly | Allele length | hg38 | 213333 | hg19 | 213333 | hg18 | 213333 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv16449, esv16038, esv10004, esv11903, esv16570, esv11093, esv14615, esv16702, esv11322, esv20377, esv21252, esv11430, esv19650, esv18119, esv12324 | Samples | NA18502, NA11995, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12828, NA11993, NA12489, NA18907, NA07045, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19147, NA18517, NA07037, NA12749, NA19129, NA12006, NA18511 | Known Genes | ACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B | 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) | esv23292
| Frequency | Sample Size | 40 | Observed Gain | 21 | Observed Loss | 11 | Observed Complex | 0 | Frequency | n/a |
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