A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563554



Internal ID7036314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43918172..43929537hg38UCSC Ensembl
Outerchr5:43918274..43929639hg19UCSC Ensembl
Outerchr5:43954031..43965396hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3811366
hg1911366
hg1811366
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009911
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563554
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