A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564967



Internal ID7036067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17567552..17577819hg38UCSC Ensembl
Outerchr8:17425061..17435328hg19UCSC Ensembl
Outerchr8:17469335..17479613hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3810268
hg1910268
hg1810279
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989082
Supporting Variants
SamplesHuRef
Known GenesPDGFRL, SLC7A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564967
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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