A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353507



Internal ID14853771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47582087..47583885hg38UCSC Ensembl
Innerchr17:47582885..47583087hg38UCSC Ensembl
Outerchr17:47581087..47584885hg38UCSC Ensembl
chr17:45659453..45661251hg19UCSC Ensembl
Innerchr17:45660251..45660453hg19UCSC Ensembl
Outerchr17:45658453..45662251hg19UCSC Ensembl
chr17:43014452..43016250hg18UCSC Ensembl
Innerchr17:43015452..43015250hg18UCSC Ensembl
Outerchr17:43013452..43017250hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690945
SamplesNA19238
Known GenesNPEPPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353507
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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