A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788203



Internal ID18830249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144975559..145068028hg38UCSC Ensembl
Innerchr8:146200945..146293414hg19UCSC Ensembl
Innerchr8:146171749..146264218hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3892470
hg1992470
hg1892470
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 Human OmniExpress
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788203
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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