A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999554



Internal ID6735478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10411264..10415853hg38UCSC Ensembl
Outerchr21:11096604..11101193hg19UCSC Ensembl
Outerchr21:10118475..10123064hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3815858
hg1915858
hg1815858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564493
SamplesHuRef
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999554
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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