A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8892n54



Internal ID20142316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1247123..1249829hg38UCSC Ensembl
chr4:1240911..1243617hg19UCSC Ensembl
chr4:1230911..1233617hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382707
hg192707
hg182707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593284, nsv593283, nsv593285
Samples
Known GenesCTBP1, CTBP1-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8892n54
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