A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789362



Internal ID18834793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22039745..22219245hg38UCSC Ensembl
Innerchr22:22394144..22573637hg19UCSC Ensembl
Innerchr22:20724144..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38179501
hg19179494
hg18179494
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893445
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=162
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789362
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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