A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1401n223



Internal ID22804369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11008862..11133423hg38UCSC Ensembl
chr12:11161461..11286022hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38124562
hg19124562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6470525, nsv6470814
Samples
Known GenesPRH1-PRR4, TAS2R19, TAS2R30, TAS2R31, TAS2R43, TAS2R46
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1401n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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