A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731283



Internal ID15044944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69961546..69961950hg38UCSC Ensembl
Innerchr17:69961646..69961850hg38UCSC Ensembl
Outerchr17:69961446..69962050hg38UCSC Ensembl
chr17:67957687..67958091hg19UCSC Ensembl
Innerchr17:67957787..67957991hg19UCSC Ensembl
Outerchr17:67957587..67958191hg19UCSC Ensembl
chr17:65469282..65469686hg18UCSC Ensembl
Innerchr17:65469382..65469586hg18UCSC Ensembl
Outerchr17:65469182..65469786hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38405
hg19405
hg18405
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302516
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731283
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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