A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275540



Internal ID348446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210486622..210487383hg38UCSC Ensembl
Outerchr1:210484992..210489656hg38UCSC Ensembl
Innerchr1:210659966..210660727hg19UCSC Ensembl
Outerchr1:210658336..210663000hg19UCSC Ensembl
Innerchr1:208726589..208727350hg18UCSC Ensembl
Outerchr1:208724959..208729623hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384665
hg194665
hg184665
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585193, essv2585673
Samples
Known GenesHHAT
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275540
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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