A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585730



Internal ID347309
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274933
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)essv2585730
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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