A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838350



Internal ID18423057
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 StatusS
Merged Variantsesv3584669
Supporting Variants
SamplesOA059
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)essv9838350
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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