A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693484



Internal ID15117120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216808184..216809482hg38UCSC Ensembl
Innerchr2:216808482..216809184hg38UCSC Ensembl
Outerchr2:216807184..216810482hg38UCSC Ensembl
chr2:217672907..217674205hg19UCSC Ensembl
Innerchr2:217673205..217673907hg19UCSC Ensembl
Outerchr2:217671907..217675205hg19UCSC Ensembl
chr2:217381152..217382450hg18UCSC Ensembl
Innerchr2:217382152..217381450hg18UCSC Ensembl
Outerchr2:217380152..217383450hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342360
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693484
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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