A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670074



Internal ID9589493
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5930409, essv6177109, essv6569127
SamplesHG00189, HG00330, HG01353
Known GenesSLC30A8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670074
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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