A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618796



Internal ID7005678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128543327..128545332hg38UCSC Ensembl
Innerchr8:128543364..128545295hg38UCSC Ensembl
Outerchr8:128543290..128545369hg38UCSC Ensembl
chr8:129555573..129557578hg19UCSC Ensembl
Innerchr8:129555610..129557541hg19UCSC Ensembl
Outerchr8:129555536..129557615hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg382006
hg192006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13323997
SamplesHG01596
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618796
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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