A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7542729



Internal ID10474325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18793948..18794922hg38UCSC Ensembl
Outerchr8:18651458..18652432hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3273162
Supporting Variants
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7542729
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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