Variant DetailsVariant: esv3581177 | Internal ID | 18709375 | | Landmark | | | Location Information | | | Cytoband | 14q21.3 | | Allele length | | Assembly | Allele length | | hg38 | 10169 | | hg19 | 10169 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv634e212 | | Supporting Variants | essv9805496, essv9805498, essv9805486, essv9805516, essv9805504, essv9805487, essv9805514, essv9805481, essv9805517, essv9805509, essv9805515, essv9805503, essv9805494, essv9805489, essv9805519, essv9805500, essv9805513, essv9805518, essv9805512, essv9805505, essv9805493, essv9805482, essv9805484, essv9805511, essv9805502, essv9805490, essv9805508, essv9805485, essv9805491, essv9805506, essv9805492, essv9805497, essv9805495, essv9805483, essv9805507, essv9805501 | | Samples | 401497PR, 401021SC, 401191MI, 400075MR, 401366WD, 401489CB, 400821FE, 400336BG, 400876OG, 401249TP, 401190WC, 401281BP, 401860TJ, 400134WK, 401214BJ, 400231LP, 400073HT, 401994BD, 400653GP, 401029SD, 401646MC, 401386WA, 400249BC, 400846MC, 400598DA, 401112LG, 400788PV, 401025SM, 401149VA, 401858TP, 401135CS, 401763SG, 400792RE, 400106PC, 400084DM, 401453OL | | Known Genes | MDGA2 | | 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) | esv3581177
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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