A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543553



Internal ID18744629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:59488939..59489424hg38UCSC Ensembl
Outerchr8:59488934..59489428hg38UCSC Ensembl
Innerchr8:60401498..60401983hg19UCSC Ensembl
Outerchr8:60401493..60401987hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742300
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543553
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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