A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv693e201



Internal ID22760051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10779500..10779924hg38UCSC Ensembl
chr21:10732533..10732957hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2723116, esv2723115
SamplesSSM074, SSM088, SSM023, SSM089, SSM085
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)dgv693e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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