A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838386



Internal ID18769875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5766850..5788231hg38UCSC Ensembl
Innerchr11:5788080..5809461hg19UCSC Ensembl
Innerchr11:5744656..5766037hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3821382
hg1921382
hg1821382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584634
Supporting Variants
SamplesOA091
Known GenesOR52N1, OR52N5
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)essv9838386
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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