A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303669



Internal ID15150617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181813401..181813402hg38UCSC Ensembl
Innerchr3:181813329..181813474hg38UCSC Ensembl
Outerchr3:181813328..181813475hg38UCSC Ensembl
chr3:181531189..181531190hg19UCSC Ensembl
Innerchr3:181531117..181531262hg19UCSC Ensembl
Outerchr3:181531116..181531263hg19UCSC Ensembl
chr3:183013883..183013884hg18UCSC Ensembl
Innerchr3:183013956..183013811hg18UCSC Ensembl
Outerchr3:183013810..183013957hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753734, essv7745755, essv7747743, essv7750896, essv7742911, essv7743818, essv7746503, essv7754501, essv7743265, essv7747491, essv7754593, essv7747128, essv7761974, essv7755494, essv7758852
SamplesNA18861, NA19005, NA18916, NA12287, NA18949, NA12044, NA12828, NA18948, NA19114, NA19225, NA18858, NA18945, NA19108, NA19129, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303669
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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