A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7743111



Internal ID14443622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81543831..81543832hg38UCSC Ensembl
Innerchr8:81543804..81543859hg38UCSC Ensembl
Outerchr8:81543803..81543860hg38UCSC Ensembl
chr8:82456066..82456067hg19UCSC Ensembl
Innerchr8:82456039..82456094hg19UCSC Ensembl
Outerchr8:82456038..82456095hg19UCSC Ensembl
chr8:82618621..82618622hg18UCSC Ensembl
Innerchr8:82618649..82618594hg18UCSC Ensembl
Outerchr8:82618593..82618650hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305532
Supporting Variants
SamplesNA18916
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7743111
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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