A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv100n206



Internal ID22755404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20854709..21381667hg38UCSC Ensembl
chr12:21007643..21534601hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38526959
hg19526959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5501646, nsv5505836
Samples
Known GenesIAPP, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv100n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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