A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789406



Internal ID18827355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22048542..22208677hg38UCSC Ensembl
Innerchr22:22402940..22563068hg19UCSC Ensembl
Innerchr22:20732940..20893068hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38160136
hg19160129
hg18160129
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=152
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789406
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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