A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585241



Internal ID346820
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275457
Supporting Variants
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)essv2585241
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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