A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586030



Internal ID347609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:6510485..6510485hg38UCSC Ensembl
Outerchr2:6510366..6510953hg38UCSC Ensembl
Innerchr2:6650617..6650617hg19UCSC Ensembl
Outerchr2:6650498..6651085hg19UCSC Ensembl
Innerchr2:6568068..6568068hg18UCSC Ensembl
Outerchr2:6567949..6568536hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38588
hg19588
hg18588
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275246
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)essv2586030
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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