A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838376



Internal ID18769027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5766850..5787909hg38UCSC Ensembl
Innerchr11:5788080..5809139hg19UCSC Ensembl
Innerchr11:5744656..5765715hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3821060
hg1921060
hg1821060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584629
Supporting Variants
SamplesB10
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)essv9838376
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer