A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617541



Internal ID7004426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69100811..69114161hg38UCSC Ensembl
Innerchr8:69100820..69114152hg38UCSC Ensembl
Outerchr8:69100802..69114170hg38UCSC Ensembl
chr8:70013046..70026396hg19UCSC Ensembl
Innerchr8:70013055..70026387hg19UCSC Ensembl
Outerchr8:70013037..70026405hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3813351
hg1913351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13219190
SamplesNA19184
Known GenesLOC100505718
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617541
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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