A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790104



Internal ID18814951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52371213..52674146hg38UCSC Ensembl
Innerchr8:53283773..53586706hg19UCSC Ensembl
Innerchr8:53446326..53749259hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38302934
hg19302934
hg18302934
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891395
Supporting Variants
Samples
Known GenesFAM150A, RB1CC1, ST18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=69
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790104
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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