A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333442



Internal ID15180429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69021163..69021461hg38UCSC Ensembl
Innerchr8:69021162..69021462hg38UCSC Ensembl
Outerchr8:69020163..69022461hg38UCSC Ensembl
chr8:69933398..69933696hg19UCSC Ensembl
Innerchr8:69933397..69933697hg19UCSC Ensembl
Outerchr8:69932398..69934696hg19UCSC Ensembl
chr8:70095952..70096250hg18UCSC Ensembl
Innerchr8:70096251..70095951hg18UCSC Ensembl
Outerchr8:70094952..70097250hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696343
SamplesNA12891
Known GenesLOC100505718
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333442
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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