A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791231



Internal ID18824789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22164218hg38UCSC Ensembl
Innerchr22:22315312..22518611hg19UCSC Ensembl
Innerchr22:20645312..20848611hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38203279
hg19203300
hg18203300
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893445
Supporting Variants
Samples
Known GenesTOP3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=134
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791231
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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