A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584663



Internal ID18770133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20881447..20941822hg38UCSC Ensembl
Innerchr14:21349606..21409981hg19UCSC Ensembl
Innerchr14:20419446..20479821hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3860376
hg1960376
hg1860376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838699, essv9838701
SamplesOA007, OA013
Known GenesECRP, RNASE3
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)esv3584663
Frequency
Sample Size34
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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