A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2545n152



Internal ID22818248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21183088..21183482hg38UCSC Ensembl
chr14:21651247..21651641hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228690, nsv3216556
SamplesNA19239, HG00731, HG00732, HG00733
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)dgv2545n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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