A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369304



Internal ID14869563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46718994..46718994hg38UCSC Ensembl
Innerchr13:46718993..46718995hg38UCSC Ensembl
Outerchr13:46718934..46719044hg38UCSC Ensembl
chr13:47293129..47293129hg19UCSC Ensembl
Innerchr13:47293128..47293130hg19UCSC Ensembl
Outerchr13:47293069..47293179hg19UCSC Ensembl
chr13:46191130..46191130hg18UCSC Ensembl
Innerchr13:46191131..46191129hg18UCSC Ensembl
Outerchr13:46191070..46191180hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8815196
SamplesNA12878
Known GenesLRCH1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369304
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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