A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443513



Internal ID15290466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102589948..102590846hg38UCSC Ensembl
Innerchr8:102589947..102590847hg38UCSC Ensembl
Outerchr8:102588948..102591846hg38UCSC Ensembl
chr8:103602176..103603074hg19UCSC Ensembl
Innerchr8:103602175..103603075hg19UCSC Ensembl
Outerchr8:103601176..103604074hg19UCSC Ensembl
chr8:103671352..103672250hg18UCSC Ensembl
Innerchr8:103672251..103671351hg18UCSC Ensembl
Outerchr8:103670352..103673250hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696095
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443513
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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