A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9780141



Internal ID18636150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:66996493..67258951hg38UCSC Ensembl
Innerchr6:67706386..67968844hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38262459
hg19262459
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576173
Supporting Variants
Samples400291VJ
Known Genes
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
CommentsNumber of probes=194
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9780141
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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