A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410985



Internal ID15257945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29587117..29589815hg38UCSC Ensembl
Innerchr8:29588117..29588815hg38UCSC Ensembl
Outerchr8:29586117..29590815hg38UCSC Ensembl
chr8:29444633..29447331hg19UCSC Ensembl
Innerchr8:29445633..29446331hg19UCSC Ensembl
Outerchr8:29443633..29448331hg19UCSC Ensembl
chr8:29500552..29503250hg18UCSC Ensembl
Innerchr8:29501552..29502250hg18UCSC Ensembl
Outerchr8:29499552..29504250hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696280
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410985
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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