A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584685



Internal ID18423469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30488460..30796274hg38UCSC Ensembl
Innerchr15:30780663..31088477hg19UCSC Ensembl
Innerchr15:28567955..28875769hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38307815
hg19307815
hg18307815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e213
Supporting Variantsessv9837876
SamplesKSM008
Known GenesARHGAP11B, GOLGA8H, LOC100288637, ULK4P1, ULK4P2
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)esv3584685
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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