A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731438



Internal ID13280474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41005870..41006147hg38UCSC Ensembl
Innerchr13:41005970..41006047hg38UCSC Ensembl
Outerchr13:41005770..41006247hg38UCSC Ensembl
chr13:41580006..41580283hg19UCSC Ensembl
Innerchr13:41580106..41580183hg19UCSC Ensembl
Outerchr13:41579906..41580383hg19UCSC Ensembl
chr13:40478006..40478283hg18UCSC Ensembl
Innerchr13:40478106..40478183hg18UCSC Ensembl
Outerchr13:40477906..40478383hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302475
Supporting Variants
SamplesNA12878
Known GenesELF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731438
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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