A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584968



Internal ID18423752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2507648..2626783hg38UCSC Ensembl
Innerchr20:2488294..2607429hg19UCSC Ensembl
Innerchr20:2436294..2555429hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38119136
hg19119136
hg18119136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40e213
Supporting Variantsessv9838826
SamplesOA091
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)esv3584968
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer