A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585427



Internal ID347006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:38072635..38072951hg38UCSC Ensembl
Outerchr13:38059330..38085716hg38UCSC Ensembl
Innerchr13:38646772..38647088hg19UCSC Ensembl
Outerchr13:38633467..38659853hg19UCSC Ensembl
Innerchr13:37544772..37545088hg18UCSC Ensembl
Outerchr13:37531467..37557853hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3826387
hg1926387
hg1826387
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274978
Supporting Variants
Samples
Known GenesLINC00571
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585427
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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