A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543191



Internal ID18744267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:20740002..20742989hg38UCSC Ensembl
Outerchr8:20739490..20743357hg38UCSC Ensembl
Innerchr8:20597513..20600500hg19UCSC Ensembl
Outerchr8:20597001..20600868hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383868
hg193868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741938
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543191
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer