A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671472



Internal ID13315475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:106285860..106285939hg38UCSC Ensembl
Innerchr8:106285867..106285932hg38UCSC Ensembl
Outerchr8:106285853..106285946hg38UCSC Ensembl
chr8:107298088..107298167hg19UCSC Ensembl
Innerchr8:107298095..107298160hg19UCSC Ensembl
Outerchr8:107298081..107298174hg19UCSC Ensembl
chr8:107367264..107367343hg18UCSC Ensembl
Innerchr8:107367271..107367336hg18UCSC Ensembl
Outerchr8:107367257..107367350hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390747
Supporting Variants
SamplesNA12878
Known GenesOXR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671472
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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