A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561499



Internal ID18415889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:14136683..14137355hg38UCSC Ensembl
Outerchr3:14136657..14137404hg38UCSC Ensembl
Innerchr3:14178183..14178855hg19UCSC Ensembl
Outerchr3:14178157..14178904hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760246
Samples
Known GenesTMEM43
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561499
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