A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445633



Internal ID15292585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9930138..9930138hg38UCSC Ensembl
Innerchr8:9930137..9930139hg38UCSC Ensembl
Outerchr8:9930088..9930188hg38UCSC Ensembl
chr8:9787648..9787648hg19UCSC Ensembl
Innerchr8:9787647..9787649hg19UCSC Ensembl
Outerchr8:9787598..9787698hg19UCSC Ensembl
chr8:9825058..9825058hg18UCSC Ensembl
Innerchr8:9825059..9825057hg18UCSC Ensembl
Outerchr8:9825008..9825108hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38748
hg19748
hg18748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741349
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445633
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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