A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598551



Internal ID6985687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:166802809..166819615hg38UCSC Ensembl
chr3:166520597..166537403hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3816807
hg1916807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11217723, essv11217727, essv11217721, essv11217718, essv11217728, essv11217720, essv11217719, essv11217717, essv11217725, essv11217722, essv11217724, essv11217726
SamplesHG00351, HG00326, HG00290, NA20854, NA19670, NA11893, HG01680, NA12043, NA12347, NA11892, HG02284, NA11832
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598551
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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