A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584691



Internal ID18770161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34408482..34538743hg38UCSC Ensembl
Innerchr15:34700683..34830944hg19UCSC Ensembl
Innerchr15:32487975..32618236hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38130262
hg19130262
hg18130262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e213
Supporting Variantsessv9838882, essv9838883, essv9838881, essv9838879
SamplesB4, OA2A, KSF008, OA018b
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)esv3584691
Frequency
Sample Size34
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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