A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv40e213



Internal ID20151587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2507648..2627511hg38UCSC Ensembl
chr20:2488294..2608157hg19UCSC Ensembl
chr20:2436294..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 Variants
Supporting Variantsesv3584969, esv3584968, esv3584967
SamplesOA2A, OA013, OA091
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)dgv40e213
Frequency
Sample Size34
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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