A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838676



Internal ID18422835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106974..32158349hg38UCSC Ensembl
Innerchr5:32107080..32158455hg19UCSC Ensembl
Innerchr5:32142837..32194212hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3851376
hg1951376
hg1851376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584528
Supporting Variants
SamplesOA013
Known GenesGOLPH3, PDZD2
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)essv9838676
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