A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585831



Internal ID724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27218434..27218620hg38UCSC Ensembl
Outerchr2:27216883..27219036hg38UCSC Ensembl
Innerchr2:27441302..27441488hg19UCSC Ensembl
Outerchr2:27439751..27441904hg19UCSC Ensembl
Innerchr2:27294806..27294992hg18UCSC Ensembl
Outerchr2:27293255..27295408hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382154
hg192154
hg182154
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275571
Supporting Variants
Samples
Known GenesATRAID, CAD
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585831
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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