A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584490



Internal ID18423274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18917325..19019471hg38UCSC Ensembl
Innerchr22:18904838..19006984hg19UCSC Ensembl
Innerchr22:17284838..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38102147
hg19102147
hg18102147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e213
Supporting Variantsessv9838777
SamplesOA005
Known GenesDGCR5, DGCR9, PRODH
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)esv3584490
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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