A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891387



Internal ID18839097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43333739..43756911hg38UCSC Ensembl
Outerchr8:42998571..43918067hg38UCSC Ensembl
Innerchr8:43188882..43612054hg19UCSC Ensembl
Outerchr8:42853714..43773210hg19UCSC Ensembl
Innerchr8:43308039..43731211hg18UCSC Ensembl
Outerchr8:42972871..43892367hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38919497
hg19919497
hg18919497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790275, essv25788542
Samples
Known GenesFNTA, HGSNAT, HOOK3, POMK, POTEA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891387
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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