A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543643



Internal ID18744719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72199842..72199971hg38UCSC Ensembl
Outerchr8:72199837..72199975hg38UCSC Ensembl
Innerchr8:73112077..73112206hg19UCSC Ensembl
Outerchr8:73112072..73112210hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742390
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543643
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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