A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13300666



Internal ID1499619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116961427..116963100hg38UCSC Ensembl
Innerchr8:116961427..116963100hg38UCSC Ensembl
Outerchr8:116961142..116963334hg38UCSC Ensembl
chr8:117973666..117975339hg19UCSC Ensembl
Innerchr8:117973666..117975339hg19UCSC Ensembl
Outerchr8:117973381..117975573hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381674
hg191674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618543
Supporting Variants
SamplesHG01377
Known GenesSLC30A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13300666
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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