A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4845n152



Internal ID22820548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142677037..142677375hg38UCSC Ensembl
chr2:143434606..143434944hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3188389, nsv3521908
SamplesNA19238, NA19239, NA19240, HG00513
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)dgv4845n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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