A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6129n152



Internal ID22821832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122419595..122419922hg38UCSC Ensembl
chr3:122138442..122138769hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3186759, nsv3524395
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)dgv6129n152
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