A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584693



Internal ID18423477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34408482..34570522hg38UCSC Ensembl
Innerchr15:34700683..34862723hg19UCSC Ensembl
Innerchr15:32487975..32650015hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38162041
hg19162041
hg18162041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e213
Supporting Variantsessv9838916
SamplesKSM003
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)esv3584693
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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