Variant DetailsVariant: esv3580482 Internal ID | 18361994 | Landmark | | Location Information | | Cytoband | 12q24.21 | Allele length | Assembly | Allele length | hg38 | 4523 | hg19 | 4523 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9802329, essv9802322, essv9802342, essv9802336, essv9802321, essv9802338, essv9802331, essv9802344, essv9802325, essv9802318, essv9802332, essv9802330, essv9802333, essv9802337, essv9802339, essv9802328, essv9802343, essv9802326, essv9802324, essv9802340, essv9802327, essv9802319, essv9802335, essv9802320, essv9802341 | Samples | 400599CP, 401489CB, 400655WB, 400337HG, 401838EN, 400032RC, 400344DR, 400582WS, 401406KF, 401979TB, 401655DC, 400768MN, 401694SG, 401813DN, 401075MN, 401919MD, 400598DA, 40050SB, 400795CL, 401010HT, 402008MC, 400811SK, 401763SG, 400106PC, 401246HH | Known Genes | MED13L | Method | SNP array | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | Platform | Affymetrix CytoScan HD 2.7M array | Comments | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | esv3580482
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 25 | Observed Complex | 0 | Frequency | n/a |
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