A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584915



Internal ID18770385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:85088630..85149161hg38UCSC Ensembl
Innerchr9:87703545..87764076hg19UCSC Ensembl
Innerchr9:86893365..86953896hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3860532
hg1960532
hg1860532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838702
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)esv3584915
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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