A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543161



Internal ID18744237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18002000..18002909hg38UCSC Ensembl
Outerchr8:18001890..18002919hg38UCSC Ensembl
Innerchr8:17859509..17860418hg19UCSC Ensembl
Outerchr8:17859399..17860428hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741908
Samples
Known GenesPCM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543161
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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