A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736116



Internal ID14465998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8905257..8905258hg38UCSC Ensembl
Outerchr17:8905118..8905398hg38UCSC Ensembl
Innerchr17:8808574..8808575hg19UCSC Ensembl
Outerchr17:8808435..8808715hg19UCSC Ensembl
Innerchr17:8749300..8749299hg18UCSC Ensembl
Outerchr17:8749160..8749440hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302889
Supporting Variants
SamplesNA19093
Known GenesPIK3R5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736116
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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