A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553474



Internal ID18754550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57292601..57294218hg38UCSC Ensembl
Outerchr16:57292280..57294377hg38UCSC Ensembl
Innerchr16:57326513..57328130hg19UCSC Ensembl
Outerchr16:57326192..57328289hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg382098
hg192098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752221
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553474
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