A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723713



Internal ID9958013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45073952..45074010hg38UCSC Ensembl
Outerchr21:46493867..46493925hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675132
SamplesSSM031
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)esv2723713
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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