A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302456



Internal ID15149403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68217878..68217942hg38UCSC Ensembl
Innerchr8:68217910..68217910hg38UCSC Ensembl
Outerchr8:68217778..68218042hg38UCSC Ensembl
chr8:69130113..69130177hg19UCSC Ensembl
Innerchr8:69130145..69130145hg19UCSC Ensembl
Outerchr8:69130013..69130277hg19UCSC Ensembl
chr8:69292667..69292731hg18UCSC Ensembl
Innerchr8:69292699..69292699hg18UCSC Ensembl
Outerchr8:69292567..69292831hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731405
SamplesNA12878
Known GenesPREX2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302456
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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