A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553207



Internal ID18754283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19495016..19495299hg38UCSC Ensembl
Outerchr16:19494950..19495350hg38UCSC Ensembl
Innerchr16:19506338..19506621hg19UCSC Ensembl
Outerchr16:19506272..19506672hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751954
Samples
Known GenesTMC5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553207
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