A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1585n152



Internal ID22817288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117512351..117515450hg38UCSC Ensembl
chr11:117383066..117386165hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229787, nsv3221598
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDSCAML1
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)dgv1585n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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