A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735017



Internal ID13277438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41006001..41006069hg38UCSC Ensembl
Outerchr13:41005801..41006269hg38UCSC Ensembl
Innerchr13:41580137..41580205hg19UCSC Ensembl
Outerchr13:41579937..41580405hg19UCSC Ensembl
Innerchr13:40478137..40478205hg18UCSC Ensembl
Outerchr13:40477937..40478405hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38469
hg19469
hg18469
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303017
Supporting Variants
SamplesNA12878
Known GenesELF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735017
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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