A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543747



Internal ID18744823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:82090349..82093159hg38UCSC Ensembl
Outerchr8:82090270..82093376hg38UCSC Ensembl
Innerchr8:83002584..83005394hg19UCSC Ensembl
Outerchr8:83002505..83005611hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg383107
hg193107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742494
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543747
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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