A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7747042



Internal ID14518702
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 StatusS
Merged Variantsesv3307773
Supporting Variants
SamplesNA19114
Known GenesTTN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7747042
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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