A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4122n152



Internal ID22819825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8422728..8422979hg38UCSC Ensembl
chr19:8487612..8487863hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219845, nsv3220316
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesMARCH2
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)dgv4122n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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