A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4134n152



Internal ID22819837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10501310..10501588hg38UCSC Ensembl
chr19:10611986..10612264hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215245, nsv3536828
SamplesNA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesKEAP1
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)dgv4134n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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