A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543168



Internal ID18397558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18793992..18794871hg38UCSC Ensembl
Outerchr8:18793870..18794947hg38UCSC Ensembl
Innerchr8:18651502..18652381hg19UCSC Ensembl
Outerchr8:18651380..18652457hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741915
Samples
Known GenesPSD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543168
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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