A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563227



Internal ID18764303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:939373..939487hg38UCSC Ensembl
Outerchr4:939352..939512hg38UCSC Ensembl
Innerchr4:933161..933275hg19UCSC Ensembl
Outerchr4:933140..933300hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761974
Samples
Known GenesTMEM175
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563227
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