A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6011n152



Internal ID22821714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72510636..72519229hg38UCSC Ensembl
chr3:72559787..72568380hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg388594
hg198594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3205947, nsv3207804
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PlatformBioNano Genomics
Illumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6011n152
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