A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837931



Internal ID18769586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19321610..19955213hg38UCSC Ensembl
Innerchr14:19909264..20423372hg19UCSC Ensembl
Innerchr14:18979264..19493212hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38633604
hg19514109
hg18513949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584743
Supporting Variants
SamplesOA017
Known GenesOR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
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)essv9837931
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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