A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307655



Internal ID14807917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45517535..45517536hg38UCSC Ensembl
Innerchr13:45517445..45517626hg38UCSC Ensembl
Outerchr13:45517444..45517627hg38UCSC Ensembl
chr13:46091670..46091671hg19UCSC Ensembl
Innerchr13:46091580..46091761hg19UCSC Ensembl
Outerchr13:46091579..46091762hg19UCSC Ensembl
chr13:44989671..44989672hg18UCSC Ensembl
Innerchr13:44989762..44989581hg18UCSC Ensembl
Outerchr13:44989580..44989763hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754167, essv7758953, essv7747771
SamplesNA19129, NA19225, NA18853
Known GenesCOG3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307655
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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