A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584662



Internal ID18770132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19791600..19954095hg38UCSC Ensembl
Innerchr14:20259759..20422254hg19UCSC Ensembl
Innerchr14:19329599..19492094hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38162496
hg19162496
hg18162496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838917
Samples1WS
Known GenesOR4K1, OR4K2, OR4K5, OR4N2
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)esv3584662
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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