A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9680036



Internal ID14911406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:24582448..24582467hg38UCSC Ensembl
Innerchr21:24582444..24582471hg38UCSC Ensembl
Outerchr21:24582425..24582490hg38UCSC Ensembl
chr21:25954762..25954781hg19UCSC Ensembl
Innerchr21:25954758..25954785hg19UCSC Ensembl
Outerchr21:25954739..25954804hg19UCSC Ensembl
chr21:24876633..24876652hg18UCSC Ensembl
Innerchr21:24876656..24876629hg18UCSC Ensembl
Outerchr21:24876610..24876675hg18UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329338
Supporting Variants
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9680036
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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