A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302889



Internal ID14803151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8905217..8905298hg38UCSC Ensembl
Innerchr17:8905257..8905257hg38UCSC Ensembl
Outerchr17:8905117..8905398hg38UCSC Ensembl
chr17:8808534..8808615hg19UCSC Ensembl
Innerchr17:8808574..8808574hg19UCSC Ensembl
Outerchr17:8808434..8808715hg19UCSC Ensembl
chr17:8749259..8749340hg18UCSC Ensembl
Innerchr17:8749299..8749299hg18UCSC Ensembl
Outerchr17:8749159..8749440hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3882
hg1982
hg1882
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7733647, essv7732356, essv7735500, essv7732749, essv7733118, essv7738950, essv7735381, essv7736472, essv7736795, essv7736869, essv7733974, essv7736116
SamplesNA12489, NA18523, NA18501, NA19093, NA18511, NA18603, NA18505, NA18916, NA18502, NA10851, NA19138, NA11993
Known GenesPIK3R5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302889
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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