A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584669



Internal ID18423453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534419..73554275hg38UCSC Ensembl
Innerchr14:74001123..74020979hg19UCSC Ensembl
Innerchr14:73070876..73090732hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3819857
hg1919857
hg1819857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838350, essv9838348, essv9838352, essv9838351, essv9838349
SamplesOA062, OA059, OA053, OA074, KSF024
Known GenesACOT1, HEATR4
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)esv3584669
Frequency
Sample Size34
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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