A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003006



Internal ID7068114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239049241..239050069hg38UCSC Ensembl
Innerchr1:239212541..239213369hg19UCSC Ensembl
Innerchr1:237279164..237279992hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38829
hg19829
hg18829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586601
SamplesHuRef
Known Genes
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003006
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer