A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7756532



Internal ID14335654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179018749..179018750hg38UCSC Ensembl
Innerchr2:179018683..179018816hg38UCSC Ensembl
Outerchr2:179018682..179018817hg38UCSC Ensembl
chr2:179883476..179883477hg19UCSC Ensembl
Innerchr2:179883410..179883543hg19UCSC Ensembl
Outerchr2:179883409..179883544hg19UCSC Ensembl
chr2:179591721..179591722hg18UCSC Ensembl
Innerchr2:179591788..179591655hg18UCSC Ensembl
Outerchr2:179591654..179591789hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38886
hg19886
hg18886
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305748
Supporting Variants
SamplesNA18638
Known GenesCCDC141
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7756532
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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