A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339073



Internal ID15186060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118761468..118761480hg38UCSC Ensembl
Innerchr5:118761459..118761486hg38UCSC Ensembl
Outerchr5:118761450..118761498hg38UCSC Ensembl
chr5:118097163..118097175hg19UCSC Ensembl
Innerchr5:118097154..118097181hg19UCSC Ensembl
Outerchr5:118097145..118097193hg19UCSC Ensembl
chr5:118125062..118125074hg18UCSC Ensembl
Innerchr5:118125080..118125053hg18UCSC Ensembl
Outerchr5:118125044..118125092hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8926331, essv8926326, essv8926327, essv8926330, essv8926339, essv8926334, essv8926337, essv8926321, essv8926338, essv8926333, essv8926329, essv8926328, essv8926325, essv8926332, essv8926320, essv8926323, essv8926322
SamplesNA18502, NA18508, NA18510, NA18519, NA18489, NA18498, NA18871, NA18907, NA19099, NA19225, NA18523, NA18909, NA19108, NA19147, NA19093, NA19116, NA18505
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339073
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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