A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584880



Internal ID18770350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15555938..15576174hg38UCSC Ensembl
Innerchr8:15413447..15433683hg19UCSC Ensembl
Innerchr8:15457818..15478054hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3820237
hg1920237
hg1820237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838362, essv9838361, essv9838363, essv9838364
SamplesKSF005, 1WS, OA072, OA016
Known GenesTUSC3
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)esv3584880
Frequency
Sample Size34
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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