A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378553



Internal ID14878823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133506058..133534656hg38UCSC Ensembl
Innerchr10:133507058..133533656hg38UCSC Ensembl
Outerchr10:133505058..133535656hg38UCSC Ensembl
chr10:135319562..135348160hg19UCSC Ensembl
Innerchr10:135320562..135347160hg19UCSC Ensembl
Outerchr10:135318562..135349160hg19UCSC Ensembl
chr10:135169552..135198150hg18UCSC Ensembl
Innerchr10:135170552..135197150hg18UCSC Ensembl
Outerchr10:135168552..135199150hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3828599
hg1928599
hg1828599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8687965
SamplesNA12892
Known GenesCYP2E1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378553
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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