A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309196



Internal ID15156145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107944177..107944178hg38UCSC Ensembl
Innerchr5:107944151..107944204hg38UCSC Ensembl
Outerchr5:107944150..107944205hg38UCSC Ensembl
chr5:107279878..107279879hg19UCSC Ensembl
Innerchr5:107279852..107279905hg19UCSC Ensembl
Outerchr5:107279851..107279906hg19UCSC Ensembl
chr5:107307777..107307778hg18UCSC Ensembl
Innerchr5:107307804..107307751hg18UCSC Ensembl
Outerchr5:107307750..107307805hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838467, essv7838197
SamplesNA12891, NA12878
Known GenesFBXL17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309196
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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