A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307773



Internal ID14808035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178687403..178687404hg38UCSC Ensembl
Innerchr2:178687373..178687434hg38UCSC Ensembl
Outerchr2:178687372..178687435hg38UCSC Ensembl
chr2:179552130..179552131hg19UCSC Ensembl
Innerchr2:179552100..179552161hg19UCSC Ensembl
Outerchr2:179552099..179552162hg19UCSC Ensembl
chr2:179260375..179260376hg18UCSC Ensembl
Innerchr2:179260406..179260345hg18UCSC Ensembl
Outerchr2:179260344..179260407hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760192, essv7751005, essv7742377, essv7744289, essv7742148, essv7747042, essv7754669
SamplesNA18861, NA12750, NA18520, NA19114, NA18501, NA18510, NA18519
Known GenesTTN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307773
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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