A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373421



Internal ID14873682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41005879..41006155hg38UCSC Ensembl
Innerchr13:41005886..41006146hg38UCSC Ensembl
Outerchr13:41005870..41006162hg38UCSC Ensembl
chr13:41580015..41580291hg19UCSC Ensembl
Innerchr13:41580022..41580282hg19UCSC Ensembl
Outerchr13:41580006..41580298hg19UCSC Ensembl
chr13:40478015..40478291hg18UCSC Ensembl
Innerchr13:40478022..40478282hg18UCSC Ensembl
Outerchr13:40478006..40478298hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670601, essv8670600
SamplesNA12892, NA12878
Known GenesELF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373421
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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