A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630375



Internal ID7017194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92174028..92196704hg38UCSC Ensembl
chr12:92567804..92590480hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3822677
hg1922677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14568892
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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