A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837840



Internal ID18422997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18782908..19018612hg38UCSC Ensembl
Innerchr22:18770421..19006125hg19UCSC Ensembl
Innerchr22:17150421..17386125hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38235705
hg19235705
hg18235705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584483
Supporting Variants
SamplesOA053
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, 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)essv9837840
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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