A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584738



Internal ID18770208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790238..43030754hg38UCSC Ensembl
Innerchr19:43294390..43534906hg19UCSC Ensembl
Innerchr19:47986230..48226746hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38240517
hg19240517
hg18240517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837841
SamplesOA020
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
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)esv3584738
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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