A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327293



Internal ID14827572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178687397..178687416hg38UCSC Ensembl
Innerchr2:178687402..178687411hg38UCSC Ensembl
Outerchr2:178687383..178687430hg38UCSC Ensembl
chr2:179552124..179552143hg19UCSC Ensembl
Innerchr2:179552129..179552138hg19UCSC Ensembl
Outerchr2:179552110..179552157hg19UCSC Ensembl
chr2:179260369..179260388hg18UCSC Ensembl
Innerchr2:179260383..179260374hg18UCSC Ensembl
Outerchr2:179260355..179260402hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909815, essv8909811, essv8909813, essv8909810, essv8909812, essv8909809, essv8909808
SamplesNA18861, NA12750, NA18520, NA19114, NA18501, NA18510, NA18519
Known GenesTTN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327293
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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