A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693558



Internal ID14689991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240961162..240961760hg38UCSC Ensembl
Innerchr2:240961161..240961761hg38UCSC Ensembl
Outerchr2:240960162..240962760hg38UCSC Ensembl
chr2:241900579..241901177hg19UCSC Ensembl
Innerchr2:241900578..241901178hg19UCSC Ensembl
Outerchr2:241899579..241902177hg19UCSC Ensembl
chr2:241549252..241549850hg18UCSC Ensembl
Innerchr2:241549851..241549251hg18UCSC Ensembl
Outerchr2:241548252..241550850hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381583
Supporting Variants
SamplesNA19239
Known GenesLOC200772
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693558
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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