A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9471n54



Internal ID20142895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12225..141544hg38UCSC Ensembl
chr5:12225..141659hg19UCSC Ensembl
chr5:65225..194659hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38129320
hg19129435
hg18129435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596593, nsv596590
Samples
Known GenesPLEKHG4B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9471n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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