A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838335



Internal ID13698239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20645035..20645036hg38UCSC Ensembl
Innerchr8:20645006..20645065hg38UCSC Ensembl
Outerchr8:20645005..20645066hg38UCSC Ensembl
chr8:20502546..20502547hg19UCSC Ensembl
Innerchr8:20502517..20502576hg19UCSC Ensembl
Outerchr8:20502516..20502577hg19UCSC Ensembl
chr8:20546826..20546827hg18UCSC Ensembl
Innerchr8:20546856..20546797hg18UCSC Ensembl
Outerchr8:20546796..20546857hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309761
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838335
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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