A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv986e59



Internal ID20127735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41005869..41006169hg38UCSC Ensembl
chr13:41580005..41580305hg19UCSC Ensembl
chr13:40478005..40478305hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38301
hg19301
hg18301
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3303017, esv3302475
SamplesNA19114, NA10847, NA12751, NA12892, NA12156, NA12878, NA11993
Known GenesELF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv986e59
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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