A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14e213



Internal ID22786032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19675350..19955213hg38UCSC Ensembl
chr14:20143509..20423372hg19UCSC Ensembl
chr14:19213349..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 Variants
Supporting Variantsesv3584765, esv3584721, esv3584732
SamplesOA062, OA059, OA001, KSF008, B10, 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)dgv14e213
Frequency
Sample Size34
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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