A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584485



Internal ID18423269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18806434..18964032hg38UCSC Ensembl
Innerchr22:18793947..18951545hg19UCSC Ensembl
Innerchr22:17173947..17331545hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38157599
hg19157599
hg18157599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838914
SamplesKSF005
Known GenesDGCR6, 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)esv3584485
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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