A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564182



Internal ID7035282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:63290332..63293657hg38UCSC Ensembl
Outerchr8:64202890..64206215hg19UCSC Ensembl
Outerchr8:64365444..64368769hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg383326
hg193326
hg183326
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996121
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564182
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