A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275360



Internal ID348266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:90046734..90050429hg38UCSC Ensembl
Outerchr6:90046168..90052191hg38UCSC Ensembl
Innerchr6:90756453..90760148hg19UCSC Ensembl
Outerchr6:90755887..90761910hg19UCSC Ensembl
Innerchr6:90813174..90816869hg18UCSC Ensembl
Outerchr6:90812608..90818631hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg386024
hg196024
hg186024
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585462, essv2585514
Samples
Known GenesBACH2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275360
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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