A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723705



Internal ID10307341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45016443..45016987hg38UCSC Ensembl
Outerchr21:46436358..46436902hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859103, essv6871669, essv6753456
SamplesSSM087, SSM057, SSM090
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)esv2723705
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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