A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8909816



Internal ID14328853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179018722..179018787hg38UCSC Ensembl
Innerchr2:179018738..179018771hg38UCSC Ensembl
Outerchr2:179018706..179018803hg38UCSC Ensembl
chr2:179883449..179883514hg19UCSC Ensembl
Innerchr2:179883465..179883498hg19UCSC Ensembl
Outerchr2:179883433..179883530hg19UCSC Ensembl
chr2:179591694..179591759hg18UCSC Ensembl
Innerchr2:179591710..179591743hg18UCSC Ensembl
Outerchr2:179591678..179591775hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38886
hg19886
hg18886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435405
Supporting Variants
SamplesNA18638
Known GenesCCDC141
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8909816
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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