A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8909455



Internal ID14823563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175599068..175599086hg38UCSC Ensembl
Innerchr2:175599072..175599080hg38UCSC Ensembl
Outerchr2:175599054..175599100hg38UCSC Ensembl
chr2:176463796..176463814hg19UCSC Ensembl
Innerchr2:176463800..176463808hg19UCSC Ensembl
Outerchr2:176463782..176463828hg19UCSC Ensembl
chr2:176172042..176172060hg18UCSC Ensembl
Innerchr2:176172054..176172046hg18UCSC Ensembl
Outerchr2:176172028..176172074hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373460
Supporting Variants
SamplesNA19099
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8909455
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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