A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13201979



Internal ID5004995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53042580..53077165hg38UCSC Ensembl
Innerchr8:53042580..53077165hg38UCSC Ensembl
Outerchr8:53042080..53077665hg38UCSC Ensembl
chr8:53955140..53989725hg19UCSC Ensembl
Innerchr8:53955140..53989725hg19UCSC Ensembl
Outerchr8:53954640..53990225hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3834586
hg1934586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617231
Supporting Variants
SamplesNA18504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13201979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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