A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4669n152



Internal ID22820372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86914755..86914868hg38UCSC Ensembl
chr2:87141878..87141991hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3526497, nsv3204881
SamplesHG00512, HG00514
Known GenesRGPD2
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)dgv4669n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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