A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302457



Internal ID14802718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:106285852..106285933hg38UCSC Ensembl
Innerchr8:106285892..106285892hg38UCSC Ensembl
Outerchr8:106285752..106286033hg38UCSC Ensembl
chr8:107298080..107298161hg19UCSC Ensembl
Innerchr8:107298120..107298120hg19UCSC Ensembl
Outerchr8:107297980..107298261hg19UCSC Ensembl
chr8:107367256..107367337hg18UCSC Ensembl
Innerchr8:107367296..107367296hg18UCSC Ensembl
Outerchr8:107367156..107367437hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3882
hg1982
hg1882
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731137, essv7731342
SamplesNA12891, NA12878
Known GenesOXR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302457
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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