A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379880



Internal ID15226852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130897659..130898048hg38UCSC Ensembl
Innerchr8:130897659..130898048hg38UCSC Ensembl
Outerchr8:130895985..130899044hg38UCSC Ensembl
chr8:131909905..131910294hg19UCSC Ensembl
Innerchr8:131909905..131910294hg19UCSC Ensembl
Outerchr8:131908231..131911290hg19UCSC Ensembl
chr8:131979087..131979476hg18UCSC Ensembl
Innerchr8:131979087..131979476hg18UCSC Ensembl
Outerchr8:131977413..131980472hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38390
hg19390
hg18390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652384
SamplesNA19240
Known GenesADCY8
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379880
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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