A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326748



Internal ID15173731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133777437..133787422hg38UCSC Ensembl
Innerchr10:133778437..133786435hg38UCSC Ensembl
Outerchr10:133776437..133787422hg38UCSC Ensembl
chr10:135514762..135524747hg19UCSC Ensembl
Innerchr10:135515762..135523760hg19UCSC Ensembl
Outerchr10:135513762..135524747hg19UCSC Ensembl
chr10:135364752..135374737hg18UCSC Ensembl
Innerchr10:135365752..135373750hg18UCSC Ensembl
Outerchr10:135363752..135374737hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg389986
hg199986
hg189986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv536e59
Supporting Variantsessv8687988
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326748
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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