A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275011



Internal ID347917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8914447..8914734hg38UCSC Ensembl
Outerchr3:8908509..8918634hg38UCSC Ensembl
Innerchr3:8956131..8956418hg19UCSC Ensembl
Outerchr3:8950193..8960318hg19UCSC Ensembl
Innerchr3:8931131..8931418hg18UCSC Ensembl
Outerchr3:8925193..8935318hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3810126
hg1910126
hg1810126
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585448, essv2585526
Samples
Known GenesRAD18
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275011
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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