A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302475



Internal ID14802736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41005869..41006147hg38UCSC Ensembl
Innerchr13:41005969..41006047hg38UCSC Ensembl
Outerchr13:41005769..41006247hg38UCSC Ensembl
chr13:41580005..41580283hg19UCSC Ensembl
Innerchr13:41580105..41580183hg19UCSC Ensembl
Outerchr13:41579905..41580383hg19UCSC Ensembl
chr13:40478005..40478283hg18UCSC Ensembl
Innerchr13:40478105..40478183hg18UCSC Ensembl
Outerchr13:40477905..40478383hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv986e59
Supporting Variantsessv7731438, essv7730996
SamplesNA12892, NA12878
Known GenesELF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302475
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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