A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5036n152



Internal ID22820739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231818307..231874626hg38UCSC Ensembl
chr2:232683017..232739336hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3856320
hg1956320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3200261, nsv3210100
SamplesNA19238, HG00514
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)dgv5036n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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