A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400425



Internal ID14900702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42579509..42579509hg38UCSC Ensembl
Innerchr21:42579508..42579510hg38UCSC Ensembl
Outerchr21:42579449..42579559hg38UCSC Ensembl
chr21:43999619..43999619hg19UCSC Ensembl
Innerchr21:43999618..43999620hg19UCSC Ensembl
Outerchr21:43999559..43999669hg19UCSC Ensembl
chr21:42872688..42872688hg18UCSC Ensembl
Innerchr21:42872689..42872687hg18UCSC Ensembl
Outerchr21:42872628..42872738hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8826445
SamplesNA12878
Known GenesSLC37A1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400425
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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