A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310566



Internal ID14810831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:37823950..37823950hg38UCSC Ensembl
Outerchr21:37823950..37823950hg38UCSC Ensembl
Innerchr21:39196252..39196252hg19UCSC Ensembl
Outerchr21:39196252..39196252hg19UCSC Ensembl
Innerchr21:38118122..38118122hg18UCSC Ensembl
Outerchr21:38118122..38118122hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843422
SamplesNA12878
Known GenesKCNJ6
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310566
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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