A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584732



Internal ID18770202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19675350..19955213hg38UCSC Ensembl
Innerchr14:20143509..20423372hg19UCSC Ensembl
Innerchr14:19213349..19493212hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38279864
hg19279864
hg18279864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14e213
Supporting Variantsessv9837871, essv9837870
SamplesKSF008, 3LK
Known GenesOR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)esv3584732
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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