A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994520



Internal ID6730473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25208996..25213311hg38UCSC Ensembl
Outerchr8:25066512..25070827hg19UCSC Ensembl
Outerchr8:25122429..25126744hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384316
hg194316
hg184316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565114
SamplesHuRef
Known GenesDOCK5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994520
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