A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309890



Internal ID15156841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81543822..81543823hg38UCSC Ensembl
Innerchr8:81543793..81543852hg38UCSC Ensembl
Outerchr8:81543792..81543853hg38UCSC Ensembl
chr8:82456057..82456058hg19UCSC Ensembl
Innerchr8:82456028..82456087hg19UCSC Ensembl
Outerchr8:82456027..82456088hg19UCSC Ensembl
chr8:82618612..82618613hg18UCSC Ensembl
Innerchr8:82618642..82618583hg18UCSC Ensembl
Outerchr8:82618582..82618643hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838543, essv7837688
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309890
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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