A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7739104



Internal ID14830522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69961654..69961858hg38UCSC Ensembl
Outerchr17:69961454..69962058hg38UCSC Ensembl
Innerchr17:67957795..67957999hg19UCSC Ensembl
Outerchr17:67957595..67958199hg19UCSC Ensembl
Innerchr17:65469390..65469594hg18UCSC Ensembl
Outerchr17:65469190..65469794hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38605
hg19605
hg18605
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302987
Supporting Variants
SamplesNA19099
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7739104
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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