A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1878n152



Internal ID22817581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62629317..62629396hg38UCSC Ensembl
chr12:63023097..63023176hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3287947, nsv3214904, nsv3529181
SamplesHG00512, NA19238, 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)dgv1878n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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