A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1916n152



Internal ID22817619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81705229..81752388hg38UCSC Ensembl
chr12:82099008..82146167hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3847160
hg1947160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211683, nsv3226406, nsv3214221
SamplesHG00512, HG00732, HG00733, HG00514
Known GenesPPFIA2
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)dgv1916n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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