A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616299



Internal ID7003186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13138512..13143158hg38UCSC Ensembl
Innerchr8:13138512..13143158hg38UCSC Ensembl
Outerchr8:13138471..13143228hg38UCSC Ensembl
chr8:12996021..13000667hg19UCSC Ensembl
Innerchr8:12996021..13000667hg19UCSC Ensembl
Outerchr8:12995980..13000737hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg384647
hg194647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13113844
SamplesHG03937
Known GenesDLC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616299
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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