A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9774n54



Internal ID22777669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50692186..50794085hg38UCSC Ensembl
chr5:49988020..50089919hg19UCSC Ensembl
chr5:50023777..50125676hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38101900
hg19101900
hg18101900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598113, nsv598110, nsv598114
SamplesHGDP00664
Known GenesPARP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9774n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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