A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1993n152



Internal ID22817696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111256151..111258700hg38UCSC Ensembl
chr12:111693955..111696504hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382550
hg192550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223498, nsv3213851
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCUX2
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1993n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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