A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5054n152



Internal ID22820757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234638160..234653355hg38UCSC Ensembl
chr2:235546804..235561999hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3815196
hg1915196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3194941, nsv3209962
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, 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)dgv5054n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer