A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2468e59



Internal ID20129217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10325278..10501876hg38UCSC Ensembl
chr21:11010581..11187179hg19UCSC Ensembl
chr21:10032452..10209050hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38176599
hg19176599
hg18176599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3365250, esv3367552, esv3451408
SamplesNA12892, NA19238, NA12878
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2468e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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