A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302837



Internal ID14803099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25492062..25492229hg38UCSC Ensembl
Innerchr8:25492145..25492145hg38UCSC Ensembl
Outerchr8:25491962..25492329hg38UCSC Ensembl
chr8:25349578..25349745hg19UCSC Ensembl
Innerchr8:25349661..25349661hg19UCSC Ensembl
Outerchr8:25349478..25349845hg19UCSC Ensembl
chr8:25405495..25405662hg18UCSC Ensembl
Innerchr8:25405578..25405578hg18UCSC Ensembl
Outerchr8:25405395..25405762hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38168
hg19168
hg18168
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738108, essv7736341, essv7735833, essv7737449, essv7739251, essv7736687, essv7738162, essv7737320
SamplesNA19137, NA18861, NA11931, NA18516, NA18608, NA12144, NA18858, NA18582
Known GenesCDCA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302837
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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