A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6317n152



Internal ID22822020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194152395..194152468hg38UCSC Ensembl
chr3:193870184..193870257hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3199169, nsv3282369
SamplesHG00512, 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)dgv6317n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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