A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789352



Internal ID18828322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151368941..151423306hg38UCSC Ensembl
Innerchr1:151341417..151395782hg19UCSC Ensembl
Innerchr1:149608041..149662406hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3854366
hg1954366
hg1854366
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894200
Supporting Variants
Samples
Known GenesPOGZ, PSMB4, SELENBP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789352
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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