A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564934



Internal ID6689630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18596691..18603818hg38UCSC Ensembl
Outerchr8:18454201..18461328hg19UCSC Ensembl
Outerchr8:18498481..18505608hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg387128
hg197128
hg187128
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989363
Supporting Variants
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564934
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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