A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2349n106



Internal ID20161706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10324357..10492757hg38UCSC Ensembl
chr21:11019700..11188100hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38168401
hg19168401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1118676, nsv1124843
SamplesKWS1, KWS2
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2349n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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