A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34404



Internal ID12643757
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 StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6978114, essv6986547, essv6978113, essv6978115, essv6990197
SamplesNA11839
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34404
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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