A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306040



Internal ID14806302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35133649..35133650hg38UCSC Ensembl
Innerchr17:35133618..35133681hg38UCSC Ensembl
Outerchr17:35133617..35133682hg38UCSC Ensembl
chr17:33460668..33460669hg19UCSC Ensembl
Innerchr17:33460637..33460700hg19UCSC Ensembl
Outerchr17:33460636..33460701hg19UCSC Ensembl
chr17:30484781..30484782hg18UCSC Ensembl
Innerchr17:30484813..30484750hg18UCSC Ensembl
Outerchr17:30484749..30484814hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761224, essv7745108, essv7756993, essv7747241, essv7748745, essv7752071, essv7746855, essv7756764, essv7748080, essv7762386, essv7752355
SamplesNA19114, NA18545, NA18947, NA18576, NA18960, NA18956, NA18558, NA18564, NA18940, NA19138, NA18577
Known GenesNLE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306040
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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