A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1683n152



Internal ID22817386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2191818..2191885hg38UCSC Ensembl
chr12:2300984..2301051hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3529481, nsv3284302
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known GenesCACNA1C
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)dgv1683n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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