A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12049n54



Internal ID20145473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18994964..19008858hg38UCSC Ensembl
chr8:18852474..18866368hg19UCSC Ensembl
chr8:18896754..18910648hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3813895
hg1913895
hg1813895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610741, nsv610737, nsv610731, nsv610736
Samples
Known GenesPSD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12049n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer