A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838846



Internal ID18422869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68494770..68620261hg38UCSC Ensembl
Innerchr4:69360488..69485979hg19UCSC Ensembl
Innerchr4:69043083..69168574hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38125492
hg19125492
hg18125492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584804
Supporting Variants
SamplesOA016
Known GenesTMPRSS11E, UGT2B17
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)essv9838846
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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