A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303048



Internal ID15149996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70028898..70029193hg38UCSC Ensembl
Innerchr17:70028998..70029093hg38UCSC Ensembl
Outerchr17:70028798..70029293hg38UCSC Ensembl
chr17:68025039..68025334hg19UCSC Ensembl
Innerchr17:68025139..68025234hg19UCSC Ensembl
Outerchr17:68024939..68025434hg19UCSC Ensembl
chr17:65536634..65536929hg18UCSC Ensembl
Innerchr17:65536734..65536829hg18UCSC Ensembl
Outerchr17:65536534..65537029hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732982, essv7735887, essv7737687, essv7736588
SamplesNA19005, NA18949, NA12828, NA18593
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303048
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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