A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302688



Internal ID15149636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388083..56388152hg38UCSC Ensembl
Innerchr20:56388117..56388117hg38UCSC Ensembl
Outerchr20:56387983..56388252hg38UCSC Ensembl
chr20:54963139..54963208hg19UCSC Ensembl
Innerchr20:54963173..54963173hg19UCSC Ensembl
Outerchr20:54963039..54963308hg19UCSC Ensembl
chr20:54396546..54396615hg18UCSC Ensembl
Innerchr20:54396580..54396580hg18UCSC Ensembl
Outerchr20:54396446..54396715hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7730905, essv7731403
SamplesNA19238, NA12878
Known GenesAURKA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302688
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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