A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5979n152



Internal ID22821682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:55720145..55720209hg38UCSC Ensembl
chr3:55754173..55754237hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280316, nsv3281794
SamplesHG00733, HG00514
Known GenesERC2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5979n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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