A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692752



Internal ID14722669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46169210..46171108hg38UCSC Ensembl
Innerchr21:46170108..46170210hg38UCSC Ensembl
Outerchr21:46168210..46172108hg38UCSC Ensembl
chr21:47589124..47591022hg19UCSC Ensembl
Innerchr21:47590022..47590124hg19UCSC Ensembl
Outerchr21:47588124..47592022hg19UCSC Ensembl
chr21:46413552..46415450hg18UCSC Ensembl
Innerchr21:46414552..46414450hg18UCSC Ensembl
Outerchr21:46412552..46416450hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445126
Supporting Variants
SamplesNA19239
Known GenesSPATC1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692752
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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