A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549716



Internal ID18750792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103985772..103986878hg38UCSC Ensembl
Outerchr12:103985708..103987073hg38UCSC Ensembl
Innerchr12:104379550..104380656hg19UCSC Ensembl
Outerchr12:104379486..104380851hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381366
hg191366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748463
Samples
Known GenesTDG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549716
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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