A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368111



Internal ID15215087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4271458..4271846hg38UCSC Ensembl
Innerchr17:4271508..4271796hg38UCSC Ensembl
Outerchr17:4271408..4271896hg38UCSC Ensembl
chr17:4174753..4175141hg19UCSC Ensembl
Innerchr17:4174803..4175091hg19UCSC Ensembl
Outerchr17:4174703..4175191hg19UCSC Ensembl
chr17:4121502..4121890hg18UCSC Ensembl
Innerchr17:4121552..4121840hg18UCSC Ensembl
Outerchr17:4121452..4121940hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38389
hg19389
hg18389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740869
SamplesNA19240
Known GenesUBE2G1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368111
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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