A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275014



Internal ID347920
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585774, essv2585974
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)esv275014
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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