A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723355



Internal ID9957655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33563392..33563517hg38UCSC Ensembl
Outerchr21:34935698..34935823hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721889
SamplesSSM044
Known GenesSON
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)esv2723355
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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