A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584967



Internal ID18423751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2507648..2619294hg38UCSC Ensembl
Innerchr20:2488294..2599940hg19UCSC Ensembl
Innerchr20:2436294..2547940hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38111647
hg19111647
hg18111647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40e213
Supporting Variantsessv9838817
SamplesOA013
Known GenesTMC2, ZNF343
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)esv3584967
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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