A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34431



Internal ID12643784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903454..19048719hg38UCSC Ensembl
Innerchr22:18890967..19036232hg19UCSC Ensembl
Innerchr22:17270967..17416232hg18UCSC Ensembl
Innerchr22:17265521..17410786hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38145266
hg19145266
hg18145266
hg17145266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv174e55
Supporting Variantsessv6978008, essv6986515, essv6978009
SamplesNA10856
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
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)esv34431
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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