A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586123



Internal ID347702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:28800978..28806025hg38UCSC Ensembl
Outerchr21:28800067..28806109hg38UCSC Ensembl
Innerchr21:30173301..30178348hg19UCSC Ensembl
Outerchr21:30172390..30178432hg19UCSC Ensembl
Innerchr21:29095172..29100219hg18UCSC Ensembl
Outerchr21:29094261..29100303hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg386043
hg196043
hg186043
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275115
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)essv2586123
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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