A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3072n54



Internal ID20136496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20216603..20521581hg38UCSC Ensembl
chr13:20790742..21095720hg19UCSC Ensembl
chr13:19688742..19993720hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38304979
hg19304979
hg18304979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561220, nsv561226, nsv561218, nsv561221, nsv561225, nsv561224, nsv561219, nsv561222, nsv561223
Samples
Known GenesCRYL1, GJB6, MIR4499
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3072n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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