A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451715



Internal ID15298660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20164510..20167008hg38UCSC Ensembl
Innerchr2:20165510..20166008hg38UCSC Ensembl
Outerchr2:20163510..20168008hg38UCSC Ensembl
chr2:20364271..20366769hg19UCSC Ensembl
Innerchr2:20365271..20365769hg19UCSC Ensembl
Outerchr2:20363271..20367769hg19UCSC Ensembl
chr2:20227752..20230250hg18UCSC Ensembl
Innerchr2:20228752..20229250hg18UCSC Ensembl
Outerchr2:20226752..20231250hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2076e59
Supporting Variantsessv8693479
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451715
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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