A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584678



Internal ID18770148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19917354..20056983hg38UCSC Ensembl
Innerchr15:20122607..20262236hg19UCSC Ensembl
Innerchr15:18382621..18522250hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38139630
hg19139630
hg18139630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17e213
Supporting Variantsessv9838891
SamplesKSF005
Known Genes
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)esv3584678
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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