A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274947



Internal ID347794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:902513..903001hg38UCSC Ensembl
Outerchr20:895270..905359hg38UCSC Ensembl
Innerchr20:883156..883644hg19UCSC Ensembl
Outerchr20:875913..886002hg19UCSC Ensembl
Innerchr20:831156..831644hg18UCSC Ensembl
Outerchr20:823913..834002hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3810090
hg1910090
hg1810090
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585677, essv2586147
Samples
Known GenesANGPT4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274947
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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