A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305579



Internal ID14805841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222680453..222680454hg38UCSC Ensembl
Innerchr2:222680403..222680504hg38UCSC Ensembl
Outerchr2:222680402..222680505hg38UCSC Ensembl
chr2:223545172..223545173hg19UCSC Ensembl
Innerchr2:223545122..223545223hg19UCSC Ensembl
Outerchr2:223545121..223545224hg19UCSC Ensembl
chr2:223253416..223253417hg18UCSC Ensembl
Innerchr2:223253467..223253366hg18UCSC Ensembl
Outerchr2:223253365..223253468hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38126
hg19126
hg18126
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744099, essv7747064, essv7743975
SamplesNA19114, NA18511, NA18510
Known GenesMOGAT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305579
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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