A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv42e213



Internal ID20151589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18888915..19019471hg38UCSC Ensembl
chr22:18876428..19006984hg19UCSC Ensembl
chr22:17256428..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38130557
hg19130557
hg18130557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584487, esv3584490, esv3584489, esv3584486
SamplesOA005, OA092, 1WS, OA020
Known GenesDGCR5, DGCR6, 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)dgv42e213
Frequency
Sample Size34
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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