A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv705e201



Internal ID22760063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30741745..30742429hg38UCSC Ensembl
chr21:32114063..32114747hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2723325, esv2723323
SamplesSSM046, SSM039, SSM069, SSM067, SSM082, SSM080, SSM037, SSM043
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv705e201
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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