Variant DetailsVariant: esv3568212 | Internal ID | 18349724 | | Landmark | | | Location Information | | | Cytoband | 21q22.3 | | Allele length | | Assembly | Allele length | | hg38 | 4996 | | hg19 | 4996 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1275e212 | | Supporting Variants | essv9820560, essv9820605, essv9820624, essv9820619, essv9820495, essv9820581, essv9820457, essv9820593, essv9820549, essv9820536, essv9820484, essv9820470, essv9820622, essv9820583, essv9820434, essv9820449, essv9820554, essv9820543, essv9820597, essv9820530, essv9820483, essv9820472, essv9820446, essv9820540, essv9820460, essv9820614, essv9820572, essv9820579, essv9820556, essv9820463, essv9820570, essv9820591, essv9820528, essv9820492, essv9820568, essv9820482, essv9820461, essv9820623, essv9820584, essv9820476, essv9820545, essv9820459, essv9820542, essv9820501, essv9820531, essv9820612, essv9820602, essv9820441, essv9820486, essv9820596, essv9820529, essv9820489, essv9820607, essv9820519, essv9820613, essv9820546, essv9820601, essv9820513, essv9820494, essv9820448, essv9820541, essv9820575, essv9820535, essv9820452, essv9820481, essv9820469, essv9820504, essv9820567, essv9820563, essv9820538, essv9820479, essv9820603, essv9820606, essv9820522, essv9820474, essv9820505, essv9820523, essv9820462, essv9820516, essv9820451, essv9820509, essv9820487, essv9820625, essv9820453, essv9820437, essv9820496, essv9820491, essv9820490, essv9820586, essv9820456, essv9820537, essv9820512, essv9820493, essv9820585, essv9820580, essv9820507, essv9820616, essv9820564, essv9820511, essv9820552, essv9820454, essv9820439, essv9820626, essv9820561, essv9820467, essv9820438, essv9820558, essv9820526, essv9820525, essv9820618, essv9820503, essv9820608, essv9820582, essv9820458, essv9820547, essv9820524, essv9820500, essv9820432, essv9820559, essv9820534, essv9820442, essv9820468, essv9820615, essv9820565, essv9820514, essv9820480, essv9820551, essv9820506, essv9820574, essv9820571, essv9820471, essv9820592, essv9820450, essv9820473, essv9820498, essv9820595, essv9820548, essv9820527, essv9820464, essv9820598, essv9820620, essv9820475, essv9820517, essv9820587, essv9820604, essv9820443, essv9820576, essv9820440, essv9820589, essv9820518, essv9820594, essv9820562, essv9820485, essv9820520, essv9820617, essv9820465, essv9820508, essv9820478, essv9820569, essv9820436, essv9820447, essv9820435, essv9820573, essv9820539, essv9820515, essv9820611, essv9820550, essv9820497, essv9820445, essv9820502 | | Samples | 401482CB, 401474CE, 401021SC, 400287BP, 401191MI, 400927BD, 400599CP, 400570RW, 401465TB, 401162TM, 400739SS, 400268SY, 400789KV, 400105BB, 401052BM, 401146US, 401819BS, 401285HN, 400917CG, 400094RS, 401487FW, 400468OB, 401962BK, 401460LW, 401074CM, 400683EC, 401518VK, 401403TD, 401899MB, 401845MJ, 401918CA, 400629BM, 400325BE, 400077EB, 401949MN, 401434VN, 401368WR, 401857VG, 400934LA, 401355CD, 400453LN, 400225CJ, 401022ML, 400658BW, 400379BB, 401132CH, 400360SM, 400528LR, 402062KR, 401792KR, 402028BD, 400743LS, 400051MR, 400631SJ, 401869BG, 400882DD, 400773GS, 400203NA, 401690HA, 400073HT, 400127MD, 400022WA, 401165SB, 400368SD, 400871CM, 400356MC, 400817MB, 401550SP, 401596PJ, 400374LB, 400338SR, 400206SC, 400353ML, 401303FM, 400609FJ, 401495NR, 401855RE, 400478WE, 400333CC, 401532LJ, 400344DR, 400717BD, 400653GP, 401029SD, 401791FG, 401406KF, 401353BC, 400507VD, 400002HK, 401013GJ, 401873BK, 401979TB, 400663MD, 400352CA, 401725MR, 400615RI, 401691HA, 401027KW, 401870FB, 401084TD, 401477ST, 401617KM, 400838AM, 401432SB, 401694SG, 401652HL, 400543CK, 401968HL, 401586RS, 401618HR, 400076LC, 401879HJ, 401513KC, 401942MP, 401952UH, 401729AC, 400705KK, 400547BS, 401262RR, 400886MP, 400249BC, 401067BD, 400978JG, 400278PD, 401039PA, 400014SL, 401711WS, 401011PJ, 401369GR, 401307VR, 401176BD, 400177CG, 401334DH, 400654YW, 400671PP, 400542EG, 401898DS, 401016IT, 400601WC, 402009WP, 400881GS, 401268PS, 401881TJ, 401012TP, 401858TP, 401265CB, 400312CR, 400072GR, 402008MC, 402073LQ, 401797LS, 401763SG, 400271SR, 400778SR, 400525MR, 401912HD, 401266HM, 400315DA, 401250WD, 400013TA, 400833BB, 401836SI, 401153HS, 400581VJ, 401882CR, 400012CJ, 401612HB, 401517PR, 400942HR, 400152MR | | Known Genes | HSF2BP | | 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) | esv3568212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 170 | | Observed Complex | 0 | | Frequency | n/a |
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