A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986535



Internal ID12631893
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 StatusS
Merged Variantsesv34520
Supporting Variants
SamplesNA11829
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986535
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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