A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544192



Internal ID18745268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:128739427..128752254hg38UCSC Ensembl
Outerchr8:128738755..128754254hg38UCSC Ensembl
Innerchr8:129751673..129764500hg19UCSC Ensembl
Outerchr8:129751001..129766500hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3815500
hg1915500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742939
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544192
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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