A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305397



Internal ID15152345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45903139..45903140hg38UCSC Ensembl
Innerchr13:45903117..45903162hg38UCSC Ensembl
Outerchr13:45903116..45903163hg38UCSC Ensembl
chr13:46477274..46477275hg19UCSC Ensembl
Innerchr13:46477252..46477297hg19UCSC Ensembl
Outerchr13:46477251..46477298hg19UCSC Ensembl
chr13:45375275..45375276hg18UCSC Ensembl
Innerchr13:45375298..45375253hg18UCSC Ensembl
Outerchr13:45375252..45375299hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764598
SamplesNA11840
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305397
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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