A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547831



Internal ID18402221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:57304650..57304828hg38UCSC Ensembl
Outerchr11:57304632..57304849hg38UCSC Ensembl
Innerchr11:57072124..57072302hg19UCSC Ensembl
Outerchr11:57072106..57072323hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746578
Samples
Known GenesTNKS1BP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547831
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