A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1244n152



Internal ID22816947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3226785..3305567hg38UCSC Ensembl
chr11:3248015..3326797hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3878783
hg1978783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3225410, nsv3224431
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesMRGPRE
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1244n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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