A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1725n152



Internal ID22817428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9464430..9591975hg38UCSC Ensembl
chr12:9617026..9744571hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38127546
hg19127546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223611, nsv3226014
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1725n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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