A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788717



Internal ID18824742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68274041..68383349hg38UCSC Ensembl
Innerchr8:69186276..69295584hg19UCSC Ensembl
Innerchr8:69348830..69458138hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38109309
hg19109309
hg18109309
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891408
Supporting Variants
Samples
Known GenesC8orf34, LOC286189
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788717
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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