A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732494



Internal ID13674618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40541376..40552225hg38UCSC Ensembl
Outerchr17:40541176..40552425hg38UCSC Ensembl
Innerchr17:38697628..38708477hg19UCSC Ensembl
Outerchr17:38697428..38708677hg19UCSC Ensembl
Innerchr17:35951154..35962003hg18UCSC Ensembl
Outerchr17:35950954..35962203hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3811250
hg1911250
hg1811250
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302965
Supporting Variants
SamplesNA18550
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732494
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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