A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789300



Internal ID18825468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18969450..19003973hg38UCSC Ensembl
Innerchr8:18826960..18861483hg19UCSC Ensembl
Innerchr8:18871240..18905763hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3834524
hg1934524
hg1834524
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891367
Supporting Variants
Samples
Known GenesPSD3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789300
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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