A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584969



Internal ID18423753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2507648..2627511hg38UCSC Ensembl
Innerchr20:2488294..2608157hg19UCSC Ensembl
Innerchr20:2436294..2556157hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38119864
hg19119864
hg18119864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40e213
Supporting Variantsessv9838830
SamplesOA2A
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)esv3584969
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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