A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585650



Internal ID347229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4798891..4799343hg38UCSC Ensembl
Outerchr20:4795875..4799774hg38UCSC Ensembl
Innerchr20:4779537..4779989hg19UCSC Ensembl
Outerchr20:4776521..4780420hg19UCSC Ensembl
Innerchr20:4727537..4727989hg18UCSC Ensembl
Outerchr20:4724521..4728420hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383900
hg193900
hg183900
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274965
Supporting Variants
Samples
Known GenesRASSF2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585650
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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