A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1789n152



Internal ID22817492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32061587..32061650hg38UCSC Ensembl
chr12:32214521..32214584hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3212139, nsv3286394
SamplesHG00512, NA19238, HG00731, 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)dgv1789n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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