A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306164



Internal ID15153112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48292878..48292879hg38UCSC Ensembl
Innerchr13:48292843..48292914hg38UCSC Ensembl
Outerchr13:48292842..48292915hg38UCSC Ensembl
chr13:48867014..48867015hg19UCSC Ensembl
Innerchr13:48866979..48867050hg19UCSC Ensembl
Outerchr13:48866978..48867051hg19UCSC Ensembl
chr13:47765015..47765016hg18UCSC Ensembl
Innerchr13:47765051..47764980hg18UCSC Ensembl
Outerchr13:47764979..47765052hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758350, essv7754557, essv7752690, essv7755828, essv7746747
SamplesNA18861, NA19138, NA19102, NA18505, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306164
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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