A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543548



Internal ID18744624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:58165959..58166223hg38UCSC Ensembl
Outerchr8:58165890..58166249hg38UCSC Ensembl
Innerchr8:59078518..59078782hg19UCSC Ensembl
Outerchr8:59078449..59078808hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742295
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543548
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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