A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408403



Internal ID14908679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25462550..25462598hg38UCSC Ensembl
Innerchr8:25462536..25462612hg38UCSC Ensembl
Outerchr8:25462488..25462660hg38UCSC Ensembl
chr8:25320066..25320114hg19UCSC Ensembl
Innerchr8:25320052..25320128hg19UCSC Ensembl
Outerchr8:25320004..25320176hg19UCSC Ensembl
chr8:25375983..25376031hg18UCSC Ensembl
Innerchr8:25376045..25375969hg18UCSC Ensembl
Outerchr8:25375921..25376093hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7862795, essv7862796
SamplesNA19172, NA11992
Known GenesCDCA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408403
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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