A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1991n152



Internal ID22817694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109357616..109357715hg38UCSC Ensembl
chr12:109795421..109795520hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3284539, nsv3288893
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1991n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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