A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1243n152



Internal ID22816946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3131857..3131909hg38UCSC Ensembl
chr11:3153087..3153139hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3226138, nsv3222163
SamplesNA19238, NA19239, HG00733
Known GenesOSBPL5
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)dgv1243n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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