A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616762



Internal ID7003648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29470836..29477216hg38UCSC Ensembl
Innerchr8:29470836..29477216hg38UCSC Ensembl
Outerchr8:29470701..29477394hg38UCSC Ensembl
chr8:29328353..29334733hg19UCSC Ensembl
Innerchr8:29328353..29334733hg19UCSC Ensembl
Outerchr8:29328218..29334911hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386381
hg196381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153499, essv13153500, essv13153509, essv13153512, essv13153515, essv13153511, essv13153513, essv13153507, essv13153503, essv13153510, essv13153508, essv13153505, essv13153514, essv13153504, essv13153501, essv13153506, essv13153502
SamplesHG04096, HG04158, HG03589, HG04094, HG04059, NA21135, NA21103, NA21114, HG03585, NA21106, HG03685, HG03718, HG02657, HG03866, HG04216, NA20888, HG03698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616762
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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