A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390747



Internal ID14891028
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 StatusM
Merged Variants
Supporting Variantsessv8671471, essv8671472
SamplesNA12891, NA12878
Known GenesOXR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390747
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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