A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302516



Internal ID15149463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69961545..69961950hg38UCSC Ensembl
Innerchr17:69961645..69961850hg38UCSC Ensembl
Outerchr17:69961445..69962050hg38UCSC Ensembl
chr17:67957686..67958091hg19UCSC Ensembl
Innerchr17:67957786..67957991hg19UCSC Ensembl
Outerchr17:67957586..67958191hg19UCSC Ensembl
chr17:65469281..65469686hg18UCSC Ensembl
Innerchr17:65469381..65469586hg18UCSC Ensembl
Outerchr17:65469181..65469786hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38406
hg19406
hg18406
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1801e59
Supporting Variantsessv7731534, essv7731364, essv7731283, essv7730874, essv7731056
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302516
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer