A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274933



Internal ID347780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116452030..116452030hg38UCSC Ensembl
Outerchr1:116450535..116452068hg38UCSC Ensembl
Innerchr1:116994652..116994652hg19UCSC Ensembl
Outerchr1:116993157..116994690hg19UCSC Ensembl
Innerchr1:116796175..116796175hg18UCSC Ensembl
Outerchr1:116794680..116796213hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg381534
hg191534
hg181534
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585779, essv2585730
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)esv274933
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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