A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307980



Internal ID14808242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14280546..14280547hg38UCSC Ensembl
Innerchr21:14280509..14280584hg38UCSC Ensembl
Outerchr21:14280508..14280585hg38UCSC Ensembl
chr21:15652867..15652868hg19UCSC Ensembl
Innerchr21:15652830..15652905hg19UCSC Ensembl
Outerchr21:15652829..15652906hg19UCSC Ensembl
chr21:14574738..14574739hg18UCSC Ensembl
Innerchr21:14574776..14574701hg18UCSC Ensembl
Outerchr21:14574700..14574777hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836949
SamplesNA19239
Known GenesABCC13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307980
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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