A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566799



Internal ID18421189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149197990..149198052hg38UCSC Ensembl
Outerchr5:149197989..149198053hg38UCSC Ensembl
Innerchr5:148577553..148577615hg19UCSC Ensembl
Outerchr5:148577552..148577616hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765546
Samples
Known GenesABLIM3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566799
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