A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8313n54



Internal ID20141737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47449330..47451848hg38UCSC Ensembl
chr3:47490820..47493338hg19UCSC Ensembl
chr3:47465824..47468342hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382519
hg192519
hg182519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590225, nsv590224, nsv590222, nsv590219, nsv590231, nsv590227
Samples
Known GenesSCAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8313n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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