A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2957124



Internal ID10976790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:9077167..9087167hg38UCSC Ensembl
Innerchr21:9916000..9926000hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7226691
SamplesHuRef
Known GenesTEKT4P2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2957124
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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