A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791484



Internal ID18821866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25291547..25518626hg38UCSC Ensembl
Innerchr22:25687514..25914593hg19UCSC Ensembl
Innerchr22:24017514..24244593hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38227080
hg19227080
hg18227080
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893465
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=62
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791484
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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