A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553070



Internal ID18407460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6907743..6908388hg38UCSC Ensembl
Outerchr16:6907671..6908471hg38UCSC Ensembl
Innerchr16:6957744..6958389hg19UCSC Ensembl
Outerchr16:6957672..6958472hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751817
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553070
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