A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1901n152



Internal ID22817604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73396725..73427546hg38UCSC Ensembl
chr12:73790505..73821326hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3830822
hg1930822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3225814, nsv3220029, nsv3288208
SamplesHG00731, HG00733
Known Genes
MethodMerging
Optical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
Illumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1901n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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