A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547703



Internal ID18402093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46814124..46814207hg38UCSC Ensembl
chr11:46835674..46835757hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746450
Samples
Known GenesCKAP5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547703
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