Variant DetailsVariant: esv3580485 | Internal ID | 18361997 | | Landmark | | | Location Information | | | Cytoband | 12q24.22 | | Allele length | | Assembly | Allele length | | hg38 | 8793 | | hg19 | 8793 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv519e212 | | Supporting Variants | essv9802373, essv9802352, essv9802488, essv9802437, essv9802455, essv9802482, essv9802417, essv9802472, essv9802349, essv9802354, essv9802371, essv9802441, essv9802393, essv9802484, essv9802462, essv9802419, essv9802405, essv9802454, essv9802401, essv9802443, essv9802426, essv9802383, essv9802412, essv9802366, essv9802394, essv9802459, essv9802368, essv9802364, essv9802483, essv9802465, essv9802458, essv9802470, essv9802355, essv9802381, essv9802436, essv9802353, essv9802351, essv9802433, essv9802413, essv9802485, essv9802486, essv9802390, essv9802474, essv9802415, essv9802403, essv9802402, essv9802439, essv9802453, essv9802451, essv9802429, essv9802448, essv9802440, essv9802481, essv9802480, essv9802392, essv9802430, essv9802382, essv9802475, essv9802377, essv9802416, essv9802461, essv9802427, essv9802369, essv9802386, essv9802372, essv9802358, essv9802397, essv9802409, essv9802398, essv9802365, essv9802469, essv9802450, essv9802428, essv9802379, essv9802463, essv9802408, essv9802438, essv9802399, essv9802361, essv9802395, essv9802471, essv9802446, essv9802490, essv9802479, essv9802492, essv9802385, essv9802387, essv9802468, essv9802460, essv9802477, essv9802476, essv9802407, essv9802464, essv9802420, essv9802391, essv9802432, essv9802447, essv9802425, essv9802363, essv9802360, essv9802362, essv9802466, essv9802375, essv9802424, essv9802473, essv9802370, essv9802410, essv9802404, essv9802359, essv9802406, essv9802491, essv9802452, essv9802357, essv9802396, essv9802457, essv9802388, essv9802431, essv9802414, essv9802449, essv9802442, essv9802435, essv9802444, essv9802380, essv9802374, essv9802418, essv9802384, essv9802487, essv9802376, essv9802421, essv9802350 | | Samples | 400308SP, 400649PS, 400364SS, 400063BR, 401465TB, 401162TM, 400984LD, 400926LJ, 401212HJ, 400534ME, 400105BB, 401400NP, 401261HD, 401503MJ, 401074CM, 400906BR, 400622SJ, 400956AM, 401518VK, 401036WS, 400272AE, 401899MB, 401491BB, 401931JL, 401249TP, 401151RJ, 400730SH, 401384BP, 400553PP, 401949MN, 401733CG, 401602PR, 400425SL, 400241CP, 401136LB, 402016HZ, 401869BG, 401006ES, 401239PR, 400773GS, 400600DP, 400203NA, 400073HT, 400022WA, 400033KC, 401252AE, 401155ML, 401104DM, 401596PJ, 400564SN, 400353ML, 402056KD, 401997HB, 401791FG, 401393JW, 400113LD, 401406KF, 401620BA, 401234MB, 401192MJ, 400002HK, 400733SW, 400793BR, 401977ES, 401725MR, 400615RI, 401397WN, 400974PS, 400515ZG, 401437MJ, 401084TD, 402033WD, 401091HS, 400838AM, 400207HN, 401694SG, 401278DM, 401968HL, 401318AV, 401586RS, 401825TH, 401563TK, 400361HC, 401952UH, 401444LD, 401262RR, 401075MN, 402054BD, 402001SR, 400639RP, 400603CJ, 401086MD, 400869BK, 400524NJ, 400362TV, 401702GB, 400571WV, 400354TJ, 400999HR, 401176BD, 400611GG, 400695PH, 400474GF, 401410BJ, 400818BL, 401057SS, 400542EG, 400722OM, 401428LD, 402009WP, 401315HK, 402051AF, 401025SM, 400069CN, 401958MF, 401149VA, 401858TP, 401567BD, 400044HS, 401809FU, 400719TM, 400508RD, 401932GN, 401066MM, 400255CD, 400923OA, 400982BS, 401180GR, 401497PR, 401102RD | | Known Genes | | | 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) | esv3580485
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 130 | | Observed Complex | 0 | | Frequency | n/a |
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