A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv49e213



Internal ID20151596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68416487..68623617hg38UCSC Ensembl
chr4:69282205..69489335hg19UCSC Ensembl
chr4:68964800..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 StatusM
Merged Variants
Supporting Variantsesv3584515, esv3584516
SamplesOA012, OA003
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)dgv49e213
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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