A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788292



Internal ID18824753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144968733..145037285hg38UCSC Ensembl
Innerchr8:146194119..146262671hg19UCSC Ensembl
Innerchr8:146164923..146233475hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3868553
hg1968553
hg1868553
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 Human OmniExpress
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788292
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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