A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5497617



Internal ID9752413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53844354..53845175hg38UCSC Ensembl
Outerchr8:53844197..53845328hg38UCSC Ensembl
Innerchr8:54756914..54757735hg19UCSC Ensembl
Outerchr8:54756757..54757888hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381132
hg191132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676654
Supporting Variants
SamplesNA19703
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5497617
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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