A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1236n152



Internal ID22816939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2127246..2127298hg38UCSC Ensembl
chr11:2148476..2148528hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3227273, nsv3217235
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
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)dgv1236n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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