A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4724n152



Internal ID22820427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106467465..106467556hg38UCSC Ensembl
chr2:107083921..107084012hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202956, nsv3192055
SamplesNA19239, NA19240
Known GenesRGPD3
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)dgv4724n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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