A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275457



Internal ID348363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:72300712..72303281hg38UCSC Ensembl
Outerchr3:72298328..72304172hg38UCSC Ensembl
Innerchr3:72349863..72352432hg19UCSC Ensembl
Outerchr3:72347479..72353323hg19UCSC Ensembl
Innerchr3:72432553..72435122hg18UCSC Ensembl
Outerchr3:72430169..72436013hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg385845
hg195845
hg185845
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585781, essv2585241
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)esv275457
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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