A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324185



Internal ID14824466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31678525..31678544hg38UCSC Ensembl
Innerchr21:31678521..31678548hg38UCSC Ensembl
Outerchr21:31678502..31678567hg38UCSC Ensembl
chr21:33050838..33050857hg19UCSC Ensembl
Innerchr21:33050834..33050861hg19UCSC Ensembl
Outerchr21:33050815..33050880hg19UCSC Ensembl
chr21:31972709..31972728hg18UCSC Ensembl
Innerchr21:31972732..31972705hg18UCSC Ensembl
Outerchr21:31972686..31972751hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9680302
SamplesNA12045
Known GenesSCAF4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324185
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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