A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4544n152



Internal ID22820247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33556219..33556547hg38UCSC Ensembl
chr2:33781286..33781614hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3523720, nsv3187834
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesRASGRP3
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)dgv4544n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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