A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584953



Internal ID18423737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4844140..4886538hg38UCSC Ensembl
Innerchr19:4844152..4886550hg19UCSC Ensembl
Innerchr19:4795152..4837550hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3842399
hg1942399
hg1842399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838642, essv9838640, essv9838641
SamplesOA001, OA020, OA016
Known GenesPLIN3
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)esv3584953
Frequency
Sample Size34
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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