A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv45n152



Internal ID22815748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2797101..2807550hg38UCSC Ensembl
chr1:2713666..2724115hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3810450
hg1910450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198082, nsv3194147
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
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)dgv45n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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