A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564612



Internal ID18765688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:129359681..129361778hg38UCSC Ensembl
Outerchr4:129359650..129361838hg38UCSC Ensembl
Innerchr4:130280836..130282933hg19UCSC Ensembl
Outerchr4:130280805..130282993hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg382189
hg192189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9763359
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564612
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