A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788473



Internal ID18824426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144975559..145043035hg38UCSC Ensembl
Innerchr8:146200945..146268421hg19UCSC Ensembl
Innerchr8:146171749..146239225hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3867477
hg1967477
hg1867477
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891498
Supporting Variants
Samples
Known GenesTMED10P1, ZNF252P, ZNF252P-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788473
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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