A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348295



Internal ID15195277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38919906..38919925hg38UCSC Ensembl
Innerchr13:38919902..38919929hg38UCSC Ensembl
Outerchr13:38919883..38919948hg38UCSC Ensembl
chr13:39494043..39494062hg19UCSC Ensembl
Innerchr13:39494039..39494066hg19UCSC Ensembl
Outerchr13:39494020..39494085hg19UCSC Ensembl
chr13:38392043..38392062hg18UCSC Ensembl
Innerchr13:38392066..38392039hg18UCSC Ensembl
Outerchr13:38392020..38392085hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677955
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348295
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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