A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791589



Internal ID18818727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144958851..145068028hg38UCSC Ensembl
Innerchr8:146184237..146293414hg19UCSC Ensembl
Innerchr8:146155041..146264218hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38109178
hg19109178
hg18109178
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891498
Supporting Variants
Samples
Known GenesC8orf33, TMED10P1, ZNF252P, ZNF252P-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=33
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791589
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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