A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7802296



Internal ID13019189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14280532..14280533hg38UCSC Ensembl
Innerchr21:14280515..14280550hg38UCSC Ensembl
Outerchr21:14280514..14280551hg38UCSC Ensembl
chr21:15652853..15652854hg19UCSC Ensembl
Innerchr21:15652836..15652871hg19UCSC Ensembl
Outerchr21:15652835..15652872hg19UCSC Ensembl
chr21:14574724..14574725hg18UCSC Ensembl
Innerchr21:14574742..14574707hg18UCSC Ensembl
Outerchr21:14574706..14574743hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305555
Supporting Variants
SamplesNA12045
Known GenesABCC13
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7802296
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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