A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584629



Internal ID18770099
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 StatusM
Merged Variantsdgv9e213
Supporting Variantsessv9838380, essv9838377, essv9838376, essv9838375
Samples2RB, KSM006, 1WS, B10
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)esv3584629
Frequency
Sample Size34
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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