A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543713



Internal ID18744789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:78266266..78274765hg38UCSC Ensembl
Outerchr8:78264266..78276265hg38UCSC Ensembl
Innerchr8:79178501..79187000hg19UCSC Ensembl
Outerchr8:79176501..79188500hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3812000
hg1912000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742460
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543713
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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