A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549841



Internal ID18750917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117082917..117083533hg38UCSC Ensembl
Outerchr12:117082879..117083575hg38UCSC Ensembl
Innerchr12:117520722..117521338hg19UCSC Ensembl
Outerchr12:117520684..117521380hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748588
Samples
Known GenesTESC
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549841
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