A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793038



Internal ID18834250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17979580..18073263hg38UCSC Ensembl
Innerchr8:17837089..17930772hg19UCSC Ensembl
Innerchr8:17881369..17975052hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3893684
hg1993684
hg1893684
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891365
Supporting Variants
Samples
Known GenesASAH1, PCM1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=45
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793038
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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