A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6148n152



Internal ID22821851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129358321..129365582hg38UCSC Ensembl
chr3:129077164..129084425hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387262
hg197262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3203094, nsv3526716
SamplesHG00512, NA19238, NA19239, NA19240
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)dgv6148n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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