A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1754e212



Internal ID19008962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32391655..32394612hg38UCSC Ensembl
chr6:32359432..32362389hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382958
hg192958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570968, esv3570967
Samples401673DM, 401358VP, 401500OM, 4000046CJ, 400291VJ, 400199SA, 401112LG, 400619MP, 401249TP, 400361HC, 401795SP, 400869BK, 400344DR, 400432VA, 40050SB, 400889CM
Known GenesHCG23
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)dgv1754e212
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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