A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303017



Internal ID14803279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41005900..41006169hg38UCSC Ensembl
Innerchr13:41006000..41006069hg38UCSC Ensembl
Outerchr13:41005800..41006269hg38UCSC Ensembl
chr13:41580036..41580305hg19UCSC Ensembl
Innerchr13:41580136..41580205hg19UCSC Ensembl
Outerchr13:41579936..41580405hg19UCSC Ensembl
chr13:40478036..40478305hg18UCSC Ensembl
Innerchr13:40478136..40478205hg18UCSC Ensembl
Outerchr13:40477936..40478405hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv986e59
Supporting Variantsessv7732192, essv7738983, essv7735017, essv7737917, essv7734518, essv7736396, essv7735677
SamplesNA19114, NA10847, NA12751, NA12892, NA12156, NA12878, NA11993
Known GenesELF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303017
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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