A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4609n152



Internal ID22820312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63859871..63865004hg38UCSC Ensembl
chr2:64087005..64092138hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385134
hg195134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3193745, nsv3205252
SamplesNA19238, NA19240
Known GenesUGP2
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)dgv4609n152
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