A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584528



Internal ID18423312
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 StatusM
Merged Variants
Supporting Variantsessv9838676, essv9838675, essv9838677
SamplesOA013, OA092, OA012
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)esv3584528
Frequency
Sample Size34
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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