A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353278



Internal ID15200259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197032984..197035382hg38UCSC Ensembl
Innerchr3:197033984..197034382hg38UCSC Ensembl
Outerchr3:197031984..197036382hg38UCSC Ensembl
chr3:196759855..196762253hg19UCSC Ensembl
Innerchr3:196760855..196761253hg19UCSC Ensembl
Outerchr3:196758855..196763253hg19UCSC Ensembl
chr3:198244252..198246650hg18UCSC Ensembl
Innerchr3:198245252..198245650hg18UCSC Ensembl
Outerchr3:198243252..198247650hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2899e59
Supporting Variantsessv8694003
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353278
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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