A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274932



Internal ID347779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58912161..58915487hg38UCSC Ensembl
Outerchr20:58912150..58916492hg38UCSC Ensembl
Innerchr20:57487216..57490542hg19UCSC Ensembl
Outerchr20:57487205..57491547hg19UCSC Ensembl
Innerchr20:56920611..56923937hg18UCSC Ensembl
Outerchr20:56920600..56924942hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg384343
hg194343
hg184343
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586115, essv2586069
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)esv274932
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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