A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543171



Internal ID18397561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18994392..19007764hg38UCSC Ensembl
Outerchr8:18993316..19009990hg38UCSC Ensembl
Innerchr8:18851902..18865274hg19UCSC Ensembl
Outerchr8:18850826..18867500hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3816675
hg1916675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv465e215
Supporting Variantsessv9741918
Samples
Known GenesPSD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543171
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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