A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2641n152



Internal ID22818344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63420754..63421084hg38UCSC Ensembl
chr14:63887472..63887802hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3172985, nsv3520105
SamplesNA19238, NA19239, HG00732, HG00733, HG00513, HG00514
Known GenesPPP2R5E
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)dgv2641n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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