A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34520



Internal ID12643871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18157533..19049226hg38UCSC Ensembl
Innerchr22:18640300..19036739hg19UCSC Ensembl
Innerchr22:17020300..17416739hg18UCSC Ensembl
Innerchr22:17014854..17411293hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38891694
hg19396440
hg18396440
hg17396440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv173e55
Supporting Variantsessv6978075, essv6986535, essv6978074
SamplesNA11829
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
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)esv34520
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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