A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380236



Internal ID15227208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61984638..61984638hg38UCSC Ensembl
Innerchr8:61984637..61984639hg38UCSC Ensembl
Outerchr8:61984588..61984688hg38UCSC Ensembl
chr8:62897197..62897197hg19UCSC Ensembl
Innerchr8:62897196..62897198hg19UCSC Ensembl
Outerchr8:62897147..62897247hg19UCSC Ensembl
chr8:63059751..63059751hg18UCSC Ensembl
Innerchr8:63059752..63059750hg18UCSC Ensembl
Outerchr8:63059701..63059801hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg382747
hg192747
hg182747
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653588, essv8653586, essv8653587
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380236
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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