A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326518



Internal ID15173500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64665283..64665302hg38UCSC Ensembl
Innerchr3:64665279..64665306hg38UCSC Ensembl
Outerchr3:64665260..64665325hg38UCSC Ensembl
chr3:64650959..64650978hg19UCSC Ensembl
Innerchr3:64650955..64650982hg19UCSC Ensembl
Outerchr3:64650936..64651001hg19UCSC Ensembl
chr3:64625999..64626018hg18UCSC Ensembl
Innerchr3:64626022..64625995hg18UCSC Ensembl
Outerchr3:64625976..64626041hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678763
SamplesNA12878
Known GenesADAMTS9
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326518
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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