A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1983n152



Internal ID22817686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107608877..107608983hg38UCSC Ensembl
chr12:108002654..108002760hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3288222, nsv3222012
SamplesNA19238, HG00513, HG00514
Known GenesBTBD11
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)dgv1983n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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