A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7734425



Internal ID14336185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:21060892..21060893hg38UCSC Ensembl
Outerchr2:21060706..21061080hg38UCSC Ensembl
Innerchr2:21283764..21283765hg19UCSC Ensembl
Outerchr2:21283578..21283952hg19UCSC Ensembl
Innerchr2:21137270..21137269hg18UCSC Ensembl
Outerchr2:21137083..21137457hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38375
hg19375
hg18375
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302782
Supporting Variants
SamplesNA18638
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7734425
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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