A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585142



Internal ID346721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:162891339..162891932hg38UCSC Ensembl
Outerchr2:162887854..162904152hg38UCSC Ensembl
Innerchr2:163747849..163748442hg19UCSC Ensembl
Outerchr2:163744364..163760662hg19UCSC Ensembl
Innerchr2:163456095..163456688hg18UCSC Ensembl
Outerchr2:163452610..163468908hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3816299
hg1916299
hg1816299
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275307
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)essv2585142
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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