A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3830n152



Internal ID22819533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43369211..43369309hg38UCSC Ensembl
chr18:40949176..40949274hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216975, nsv3220645
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
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)dgv3830n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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