A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1251e212



Internal ID20149707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54035069..54042099hg38UCSC Ensembl
chr20:52651608..52658638hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387031
hg197031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568056, esv3568029, esv3568026, esv3568055, esv3568034, esv3568060, esv3568025, esv3568023, esv3568047, esv3568027, esv3568022, esv3568030, esv3568062, esv3568049, esv3568045, esv3568063, esv3568042, esv3568044, esv3568046, esv3568035, esv3568050, esv3568033, esv3568031, esv3568061, esv3568059
Samples400128MJ, 400427SD, 401125LM, 402054BD, 400908PJ, 401212HJ, 401155ML, 401358VP, 401067BD, 400545EW, 400789KV, 401958MF, 401640WJ, 400629BM, 400454RE, 401026AM, 400246MG, 400956AM, 401027KW, 400234CA, 401986LC, 401977ES, 400730SH, 401210PB, 400278PD, 401771OS, 400315DA, 401297KC, 401609MB, 401029SD, 401900RJ, 400368SD, 401068SD, 401239PR, 401403TD, 400943DV, 401110GJ, 400422PN, 400581VJ, 401732HW, 400429YF, 400899NK, 400114GR, 400450FG, 400728PB, 401347DH, 400248JO, 400634MP, 400361HC, 400496BL, 400528LR, 401252AE, 400173KP, 401444LD, 401465TB, 400444MM, 400620MT, 400833BB, 400013TA, 400177SJ, 400836LK, 400292LP, 400079AP, 401119DK, 402001SR, 401857VG, 401460LW, 400122PL, 400268SY, 400265LK, 401813DN, 401400NP
Known GenesBCAS1
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)dgv1251e212
Frequency
Sample Size873
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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