A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1478n152



Internal ID22817181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:81047901..81047952hg38UCSC Ensembl
chr11:80758944..80758995hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219207, nsv3229352
SamplesHG00512, NA19239, HG00731, 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)dgv1478n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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