A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585974



Internal ID347553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204719748..204722197hg38UCSC Ensembl
Outerchr1:204717926..204723070hg38UCSC Ensembl
Innerchr1:204688876..204691325hg19UCSC Ensembl
Outerchr1:204687054..204692198hg19UCSC Ensembl
Innerchr1:202955499..202957948hg18UCSC Ensembl
Outerchr1:202953677..202958821hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385145
hg195145
hg185145
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275014
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585974
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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