A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792326



Internal ID18831678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21832190..22409194hg38UCSC Ensembl
Innerchr22:22186479..22763526hg19UCSC Ensembl
Innerchr22:20516479..21093526hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38577005
hg19577048
hg18577048
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893447
Supporting Variants
Samples
Known GenesBMS1P20, MAPK1, PPM1F, TOP3B, VPREB1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=275
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792326
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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