A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4483n152



Internal ID22820186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11112786..11112849hg38UCSC Ensembl
chr2:11252912..11252975hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3199976, nsv3204421
SamplesHG00732, HG00733
Known GenesFLJ33534
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4483n152
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