A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9778384



Internal ID18326896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:27935887..27971490hg38UCSC Ensembl
Innerchr6:27903665..27939268hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3835604
hg1935604
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576109
Supporting Variants
Samples401393JW
Known GenesOR2B6
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=32
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9778384
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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