A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401472



Internal ID14878670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96236891..96236891hg38UCSC Ensembl
Innerchr13:96236890..96236892hg38UCSC Ensembl
Outerchr13:96236831..96236941hg38UCSC Ensembl
chr13:96889145..96889145hg19UCSC Ensembl
Innerchr13:96889144..96889146hg19UCSC Ensembl
Outerchr13:96889085..96889195hg19UCSC Ensembl
chr13:95687146..95687146hg18UCSC Ensembl
Innerchr13:95687147..95687145hg18UCSC Ensembl
Outerchr13:95687086..95687196hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8815678
SamplesNA12878
Known GenesHS6ST3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401472
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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