A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790285



Internal ID18829191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68273291..68368132hg38UCSC Ensembl
Innerchr8:69185526..69280367hg19UCSC Ensembl
Innerchr8:69348080..69442921hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3894842
hg1994842
hg1894842
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=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790285
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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