A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748463



Internal ID18722709
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 StatusS
Merged Variantsesv3549716
Supporting Variants
Samples
Known GenesTDG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748463
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer