A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368962



Internal ID15215938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:510262..510560hg38UCSC Ensembl
Innerchr17:510261..510561hg38UCSC Ensembl
Outerchr17:509262..511560hg38UCSC Ensembl
chr17:413502..413800hg19UCSC Ensembl
Innerchr17:413501..413801hg19UCSC Ensembl
Outerchr17:412502..414800hg19UCSC Ensembl
chr17:360252..360550hg18UCSC Ensembl
Innerchr17:360551..360251hg18UCSC Ensembl
Outerchr17:359252..361550hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690828
SamplesNA19239
Known GenesVPS53
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368962
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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