A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791186



Internal ID18830278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19468572..19704486hg38UCSC Ensembl
Innerchr8:19326083..19561997hg19UCSC Ensembl
Innerchr8:19370363..19606277hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38235915
hg19235915
hg18235915
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891371
Supporting Variants
Samples
Known GenesCSGALNACT1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=95
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791186
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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