A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8940987



Internal ID14054773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86610460..86610475hg38UCSC Ensembl
Innerchr8:86610457..86610478hg38UCSC Ensembl
Outerchr8:86610442..86610493hg38UCSC Ensembl
chr8:87622688..87622703hg19UCSC Ensembl
Innerchr8:87622685..87622706hg19UCSC Ensembl
Outerchr8:87622670..87622721hg19UCSC Ensembl
chr8:87691804..87691819hg18UCSC Ensembl
Innerchr8:87691822..87691801hg18UCSC Ensembl
Outerchr8:87691786..87691837hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3357941
Supporting Variants
SamplesNA18871
Known GenesCNGB3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8940987
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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