A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1275e212



Internal ID20149731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43548767..43554120hg38UCSC Ensembl
chr21:44968648..44974001hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385354
hg195354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568213, esv3568212
Samples400978JG, 400882DD, 401052BM, 401146US, 400312CR, 401266HM, 400105BB, 400683EC, 401691HA, 400654YW, 400094RS, 401942MP, 400478WE, 401482CB, 401495NR, 400942HR, 402009WP, 401979TB, 400778SR, 401067BD, 401165SB, 401912HD, 400789KV, 401532LJ, 401962BK, 401039PA, 400773GS, 401022ML, 400072GR, 400076LC, 400705KK, 400629BM, 401434VN, 401836SI, 400609FJ, 400956AM, 401074CM, 401262RR, 401517PR, 401285HN, 400379BB, 401176BD, 401027KW, 400271SR, 401819BS, 400507VD, 401869BG, 401355CD, 400653GP, 400203NA, 400599CP, 401307VR, 400927BD, 401016IT, 400663MD, 400225CJ, 400547BS, 401797LS, 400278PD, 401763SG, 400631SJ, 401952UH, 400315DA, 401487FW, 400002HK, 401612HB, 401694SG, 401792KR, 400615RI, 401652HL, 400360SM, 400743LS, 401021SC, 401303FM, 400353ML, 401029SD, 401725MR, 401474CE, 401011PJ, 401334DH, 400368SD, 400352CA, 400881GS, 401949MN, 400249BC, 401403TD, 400453LN, 401477ST, 400543CK, 401858TP, 401690HA, 402028BD, 401898DS, 400152MR, 401881TJ, 401013GJ, 401873BK, 400581VJ, 400077EB, 400014SL, 401250WD, 400356MC, 401550SP, 401406KF, 401968HL, 401596PJ, 400917CG, 401432SB, 401918CA, 400374LB, 400051MR, 400717BD, 400739SS, 401265CB, 400177CG, 401618HR, 400528LR, 401518VK, 400325BE, 400871CM, 400934LA, 401368WR, 402008MC, 401191MI, 400671PP, 400542EG, 401465TB, 400838AM, 401899MB, 400022WA, 400601WC, 400344DR, 400833BB, 400073HT, 400013TA, 400287BP, 401617KM, 401855RE, 400206SC, 401882CR, 400012CJ, 402062KR, 401845MJ, 400658BW, 400817MB, 401586RS, 401870FB, 401012TP, 400338SR, 401153HS, 400468OB, 400333CC, 401791FG, 401857VG, 400127MD, 401460LW, 400268SY, 400886MP, 401268PS, 401132CH, 401353BC, 401879HJ, 400525MR, 401513KC, 401711WS, 401729AC, 401162TM, 402073LQ, 400570RW, 401084TD, 401369GR
Known GenesHSF2BP
MethodSNP array
AnalysisWe 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.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv1275e212
Frequency
Sample Size873
Observed Gain0
Observed Loss171
Observed Complex0
Frequencyn/a


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