A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4510n152



Internal ID22820213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18635771..18635916hg38UCSC Ensembl
chr2:18817037..18817182hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198697, nsv3204750
SamplesNA19238, NA19240
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)dgv4510n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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