A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788220



Internal ID18822825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25290073..25502195hg38UCSC Ensembl
Innerchr22:25686040..25898162hg19UCSC Ensembl
Innerchr22:24016040..24228162hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38212123
hg19212123
hg18212123
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 Human OmniExpress
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788220
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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