A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3023n54



Internal ID18995199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132303726..132305655hg38UCSC Ensembl
chr12:132880312..132882241hg19UCSC Ensembl
chr12:131390385..131392314hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381930
hg191930
hg181930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560981, nsv560982
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3023n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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