A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838568



Internal ID18422296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15543669..15576174hg38UCSC Ensembl
Innerchr8:15401178..15433683hg19UCSC Ensembl
Innerchr8:15445549..15478054hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3832506
hg1932506
hg1832506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584881
Supporting Variants
Samples8S
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)essv9838568
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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