A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1242n152



Internal ID22816945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3131531..3131591hg38UCSC Ensembl
chr11:3152761..3152821hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214382, nsv3219097
SamplesNA19238, NA19239, NA19240
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)dgv1242n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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