A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9341n152



Internal ID22825044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128240915..128240967hg38UCSC Ensembl
chr8:129253161..129253213hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216880, nsv3229744
SamplesHG00512, 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)dgv9341n152
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