A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7542952



Internal ID10474548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18597110..18598443hg38UCSC Ensembl
Outerchr8:18454620..18455953hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381334
hg191334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3273385
Supporting Variants
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7542952
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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