A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788281



Internal ID18827636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37832559..37927500hg38UCSC Ensembl
Innerchr22:38228566..38323507hg19UCSC Ensembl
Innerchr22:36558512..36653453hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3894942
hg1994942
hg1894942
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893482
Supporting Variants
Samples
Known GenesANKRD54, EIF3L, MICALL1, MIR658, MIR659
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788281
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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