A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1740n152



Internal ID22817443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13198853..13213404hg38UCSC Ensembl
chr12:13351787..13366338hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3814552
hg1914552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228027, nsv3217662
SamplesHG00731, HG00732
Known GenesEMP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1740n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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