A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986515



Internal ID12631770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18907714..19048719hg38UCSC Ensembl
Innerchr22:18895227..19036232hg19UCSC Ensembl
Innerchr22:17275227..17416232hg18UCSC Ensembl
Innerchr22:17269781..17410786hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38141006
hg19141006
hg18141006
hg17141006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34431
Supporting Variants
SamplesNA10856
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986515
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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