A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334083



Internal ID15181070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72446675..72447276hg38UCSC Ensembl
Innerchr3:72446675..72447276hg38UCSC Ensembl
Outerchr3:72446585..72447644hg38UCSC Ensembl
chr3:72495826..72496427hg19UCSC Ensembl
Innerchr3:72495826..72496427hg19UCSC Ensembl
Outerchr3:72495736..72496795hg19UCSC Ensembl
chr3:72578516..72579117hg18UCSC Ensembl
Innerchr3:72578516..72579117hg18UCSC Ensembl
Outerchr3:72578426..72579485hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38602
hg19602
hg18602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652242
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334083
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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