A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789526



Internal ID18833760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20230714..20307897hg38UCSC Ensembl
Innerchr22:20218237..20295420hg19UCSC Ensembl
Innerchr22:18598237..18675420hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3877184
hg1977184
hg1877184
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893435
Supporting Variants
Samples
Known GenesMIR1286, RTN4R
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789526
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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