A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13201984



Internal ID2650071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53156144..53168512hg38UCSC Ensembl
Innerchr8:53156162..53168494hg38UCSC Ensembl
Outerchr8:53156126..53168530hg38UCSC Ensembl
chr8:54068704..54081072hg19UCSC Ensembl
Innerchr8:54068722..54081054hg19UCSC Ensembl
Outerchr8:54068686..54081090hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3812369
hg1912369
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617233
Supporting Variants
SamplesHG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13201984
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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