A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1926n152



Internal ID22817629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84072835..84129259hg38UCSC Ensembl
chr12:84466614..84523038hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3856425
hg1956425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3225498, nsv3229782
SamplesNA19240
Known Genes
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1926n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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