A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275197



Internal ID348103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:15751771..15754501hg38UCSC Ensembl
Outerchr21:15751536..15758039hg38UCSC Ensembl
Innerchr21:17124090..17126820hg19UCSC Ensembl
Outerchr21:17123855..17130358hg19UCSC Ensembl
Innerchr21:16045961..16048691hg18UCSC Ensembl
Outerchr21:16045726..16052229hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg386504
hg196504
hg186504
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585544, essv2585789
Samples
Known GenesUSP25
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275197
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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