A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978113



Internal ID12631951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25246660..25534512hg38UCSC Ensembl
Innerchr22:25642627..25930479hg19UCSC Ensembl
Innerchr22:23972627..24260479hg18UCSC Ensembl
Innerchr22:23967181..24255033hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38287853
hg19287853
hg18287853
hg17287853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34404
Supporting Variants
SamplesNA11839
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978113
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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