A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302553



Internal ID15149500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10323921..10324069hg38UCSC Ensembl
Innerchr20:10323995..10323995hg38UCSC Ensembl
Outerchr20:10323821..10324169hg38UCSC Ensembl
chr20:10304569..10304717hg19UCSC Ensembl
Innerchr20:10304643..10304643hg19UCSC Ensembl
Outerchr20:10304469..10304817hg19UCSC Ensembl
chr20:10252569..10252717hg18UCSC Ensembl
Innerchr20:10252643..10252643hg18UCSC Ensembl
Outerchr20:10252469..10252817hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38149
hg19149
hg18149
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731144, essv7731611, essv7731353, essv7731280, essv7731047
SamplesNA12891, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302553
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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