A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1554e212



Internal ID22784481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185621413..185635581hg38UCSC Ensembl
chr4:186542567..186556735hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3814169
hg1914169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569866, esv3569868, esv3569867
Samples400920MK, 401706BJ, 400908PJ, 400926LJ, 400572PJ, 401261HD, 400313DF, 400512LR, 400906BR, 400866RR, 400221VM, 401079HJ, 401719RL, 401442WR, 401249TP, 401151RJ, 400899NK, 400629BM, 400325BE, 400340CD, 401402EN, 401355CD, 400493KH, 401551MB, 401390DG, 400438DB, 401281BP, 400051MR, 401006ES, 400061DE, 400231LP, 401672FD, 400320RN, 401550SP, 401746WW, 400729HC, 401739BJ, 401234MB, 400060MC, 400929MM, 401977ES, 400663MD, 400977SC, 401210PB, 401444LD, 401067BD, 400846MC, 401711WS, 401795SP, 401702GB, 400354TJ, 401700BN, 401922MW, 400030WD, 401535RJ, 401288LD, 400792RE, 401358VP, 401607LL, 400315DA, 400833BB, 401836SI, 400581VJ, 400178RH, 400238BB, 400152MR, 400494ML, 401102RD
Known GenesSORBS2
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)dgv1554e212
Frequency
Sample Size873
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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