A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791552



Internal ID18836307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33163488..33370369hg38UCSC Ensembl
Innerchr22:33559474..33766355hg19UCSC Ensembl
Innerchr22:31889474..32096355hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38206882
hg19206882
hg18206882
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893476
Supporting Variants
Samples
Known GenesLARGE
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=62
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791552
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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