Variant DetailsVariant: esv3572614 | Internal ID | 18354126 | | Landmark | | | Location Information | | | Cytoband | 8p22 | | Allele length | | Assembly | Allele length | | hg38 | 3301 | | hg19 | 3301 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2057e212 | | Supporting Variants | essv9787476, essv9787447, essv9787415, essv9787506, essv9787474, essv9787419, essv9787487, essv9787450, essv9787523, essv9787423, essv9787479, essv9787460, essv9787484, essv9787453, essv9787436, essv9787416, essv9787498, essv9787481, essv9787517, essv9787471, essv9787519, essv9787496, essv9787418, essv9787434, essv9787503, essv9787468, essv9787413, essv9787426, essv9787473, essv9787428, essv9787448, essv9787430, essv9787462, essv9787458, essv9787522, essv9787467, essv9787530, essv9787513, essv9787461, essv9787520, essv9787435, essv9787452, essv9787441, essv9787472, essv9787463, essv9787411, essv9787424, essv9787439, essv9787516, essv9787429, essv9787494, essv9787493, essv9787427, essv9787515, essv9787526, essv9787451, essv9787492, essv9787443, essv9787525, essv9787528, essv9787491, essv9787485, essv9787440, essv9787470, essv9787483, essv9787512, essv9787531, essv9787412, essv9787514, essv9787509, essv9787446, essv9787480, essv9787408, essv9787420, essv9787482, essv9787518, essv9787495, essv9787489, essv9787454, essv9787442, essv9787432, essv9787511, essv9787409, essv9787490, essv9787456, essv9787449, essv9787527, essv9787457, essv9787459, essv9787438, essv9787508, essv9787504, essv9787502, essv9787445, essv9787417, essv9787465, essv9787524, essv9787529, essv9787500, essv9787475, essv9787431, essv9787478, essv9787414, essv9787505, essv9787486, essv9787407, essv9787507, essv9787437, essv9787497, essv9787469, essv9787464, essv9787501, essv9787425 | | Samples | 401706BJ, 401806DL, 401221LD, 400987FB, 400204SC, 400534ME, 401640WJ, 401487FW, 400970VE, 401841OB, 401783BD, 400625FT, 401733CG, 401820SD, 400897MD, 400277LM, 401426WD, 401030GI, 400658BW, 400441GS, 401064FR, 401860TJ, 400588BE, 401239PR, 401113MJ, 400600DP, 400127MD, 400022WA, 401672FD, 400583HS, 400460DM, 400356MC, 401550SP, 401831TW, 401596PJ, 400338SR, 400206SC, 401495NR, 401818PC, 400344DR, 401773AM, 400579HJ, 401801LA, 400582WS, 401646MC, 401739BJ, 401620BA, 401234MB, 400733SW, 401013GJ, 401873BK, 401376RD, 400983PV, 401386WA, 401347DH, 400352CA, 401725MR, 400825TW, 401437MJ, 400236DB, 401939GD, 400110MD, 400064WJ, 402052ZA, 401494PD, 401210PB, 401185LE, 400967PK, 401968HL, 401318AV, 401864CV, 401825TH, 401618HR, 401879HJ, 401513KC, 401419SW, 400124FR, 400171BJ, 401952UH, 401414CR, 402074RR, 401580CA, 400520FM, 401700BN, 400788PV, 400329HJ, 400177CG, 400728PB, 401496SL, 401428LD, 401268PS, 400677HD, 402048WB, 400769SL, 400328LM, 4000046CJ, 401152MV, 400323AA, 401372RR, 400879DS, 401817MC, 401358VP, 400177SJ, 400106PC, 401354KM, 400785AK, 400013TA, 402023EC, 401836SI, 400079AP, 400300SD, 400782IE, 401362ME | | Known Genes | PSD3 | | 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) | esv3572614
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 113 | | Observed Complex | 0 | | Frequency | n/a |
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