A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565248



Internal ID6689944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18588533..18594789hg38UCSC Ensembl
Outerchr8:18446043..18452299hg19UCSC Ensembl
Outerchr8:18490323..18496579hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg386257
hg196257
hg186257
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1011194
Supporting Variants
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565248
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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