A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4530n152



Internal ID22820233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27359344..27359461hg38UCSC Ensembl
chr2:27582211..27582328hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3282938, nsv3526711
SamplesNA19239, HG00731, NA19240, HG00733
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)dgv4530n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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