A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373510



Internal ID14873771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14280536..14280555hg38UCSC Ensembl
Innerchr21:14280532..14280559hg38UCSC Ensembl
Outerchr21:14280513..14280578hg38UCSC Ensembl
chr21:15652857..15652876hg19UCSC Ensembl
Innerchr21:15652853..15652880hg19UCSC Ensembl
Outerchr21:15652834..15652899hg19UCSC Ensembl
chr21:14574728..14574747hg18UCSC Ensembl
Innerchr21:14574751..14574724hg18UCSC Ensembl
Outerchr21:14574705..14574770hg18UCSC Ensembl
Cytoband21q11.2
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 Variantsessv9679657, essv9679646, essv9679624, essv9679613, essv9679635, essv9679602
SamplesNA12814, NA12812, NA12287, NA12872, NA11894, NA11840
Known GenesABCC13
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373510
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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