A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7734586



Internal ID14737894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:134867725..134867726hg38UCSC Ensembl
Outerchr8:134867559..134867892hg38UCSC Ensembl
Innerchr8:135879968..135879969hg19UCSC Ensembl
Outerchr8:135879802..135880135hg19UCSC Ensembl
Innerchr8:135949151..135949150hg18UCSC Ensembl
Outerchr8:135948984..135949317hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38334
hg19334
hg18334
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303057
Supporting Variants
SamplesNA18973
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7734586
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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