A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543166



Internal ID18397556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18618258..18618637hg38UCSC Ensembl
Outerchr8:18618166..18618656hg38UCSC Ensembl
Innerchr8:18475768..18476147hg19UCSC Ensembl
Outerchr8:18475676..18476166hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741913
Samples
Known GenesPSD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543166
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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