A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731342



Internal ID13276924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:106285853..106285933hg38UCSC Ensembl
Innerchr8:106285892..106285893hg38UCSC Ensembl
Outerchr8:106285753..106286033hg38UCSC Ensembl
chr8:107298081..107298161hg19UCSC Ensembl
Innerchr8:107298120..107298121hg19UCSC Ensembl
Outerchr8:107297981..107298261hg19UCSC Ensembl
chr8:107367257..107367337hg18UCSC Ensembl
Innerchr8:107367297..107367296hg18UCSC Ensembl
Outerchr8:107367157..107367437hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302457
Supporting Variants
SamplesNA12878
Known GenesOXR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731342
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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