A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617026



Internal ID6657222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43085930..43251904hg38UCSC Ensembl
chr8:42941073..43107047hg19UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38165975
hg19165975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13186098
SamplesHG00120
Known GenesHGSNAT, POMK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617026
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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