A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302691



Internal ID15149639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134867662..134867783hg38UCSC Ensembl
Innerchr8:134867722..134867722hg38UCSC Ensembl
Outerchr8:134867562..134867883hg38UCSC Ensembl
chr8:135879905..135880026hg19UCSC Ensembl
Innerchr8:135879965..135879965hg19UCSC Ensembl
Outerchr8:135879805..135880126hg19UCSC Ensembl
chr8:135949087..135949208hg18UCSC Ensembl
Innerchr8:135949147..135949147hg18UCSC Ensembl
Outerchr8:135948987..135949308hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38122
hg19122
hg18122
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4247e59
Supporting Variantsessv7731163, essv7731007, essv7730830, essv7731504
SamplesNA12891, NA19238, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302691
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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