A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330468



Internal ID14830745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37823951..37823951hg38UCSC Ensembl
Innerchr21:37823950..37823952hg38UCSC Ensembl
Outerchr21:37823901..37824001hg38UCSC Ensembl
chr21:39196253..39196253hg19UCSC Ensembl
Innerchr21:39196252..39196254hg19UCSC Ensembl
Outerchr21:39196203..39196303hg19UCSC Ensembl
chr21:38118123..38118123hg18UCSC Ensembl
Innerchr21:38118124..38118122hg18UCSC Ensembl
Outerchr21:38118073..38118173hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701382
SamplesNA12878
Known GenesKCNJ6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330468
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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