A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1870n152



Internal ID22817573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:60112405..60140052hg38UCSC Ensembl
chr12:60506186..60533833hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3827648
hg1927648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228830, nsv3215155
SamplesHG00512, HG00732, HG00514
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)dgv1870n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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