A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838703



Internal ID18423237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70117624..70179141hg38UCSC Ensembl
Innerchr16:70151527..70213044hg19UCSC Ensembl
Innerchr16:68709028..68770545hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3861518
hg1961518
hg1861518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584932
Supporting Variants
SamplesOA2A
Known GenesCLEC18C, PDPR
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)essv9838703
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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