A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584516



Internal ID18769986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68422420..68623617hg38UCSC Ensembl
Innerchr4:69288138..69489335hg19UCSC Ensembl
Innerchr4:68970733..69171930hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38201198
hg19201198
hg18201198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49e213
Supporting Variantsessv9838930
SamplesOA003
Known GenesTMPRSS11E, UGT2B17
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)esv3584516
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