A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543832



Internal ID18398222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91081089..91081653hg38UCSC Ensembl
Outerchr8:91081028..91081714hg38UCSC Ensembl
Innerchr8:92093317..92093881hg19UCSC Ensembl
Outerchr8:92093256..92093942hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742579
Samples
Known GenesOTUD6B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543832
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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