A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332850



Internal ID15179837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173697778..173698476hg38UCSC Ensembl
Innerchr2:173697777..173698477hg38UCSC Ensembl
Outerchr2:173696778..173699476hg38UCSC Ensembl
chr2:174562506..174563204hg19UCSC Ensembl
Innerchr2:174562505..174563205hg19UCSC Ensembl
Outerchr2:174561506..174564204hg19UCSC Ensembl
chr2:174270752..174271450hg18UCSC Ensembl
Innerchr2:174271451..174270751hg18UCSC Ensembl
Outerchr2:174269752..174272450hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693473
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332850
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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