A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5930409



Internal ID8907812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:116961365..116962944hg38UCSC Ensembl
Outerchr8:116961328..116962994hg38UCSC Ensembl
Innerchr8:117973604..117975183hg19UCSC Ensembl
Outerchr8:117973567..117975233hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381667
hg191667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670074
Supporting Variants
SamplesHG00189
Known GenesSLC30A8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5930409
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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