A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837827



Internal ID18769494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68416487..68623617hg38UCSC Ensembl
Innerchr4:69282205..69489335hg19UCSC Ensembl
Innerchr4:68964800..69171930hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38207131
hg19207131
hg18207131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584515
Supporting Variants
SamplesOA012
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)essv9837827
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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