A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5257n54



Internal ID18997433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83162838..83168071hg38UCSC Ensembl
chr16:83196443..83201676hg19UCSC Ensembl
chr16:81753944..81759177hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg385234
hg195234
hg185234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573390, nsv573394
Samples
Known GenesCDH13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5257n54
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