A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723579



Internal ID10307215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42864542..42867932hg38UCSC Ensembl
Outerchr21:44284652..44288042hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383391
hg193391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917342, essv6898551, essv6877622
SamplesSSM092, SSM016, SSM099
Known GenesWDR4
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)esv2723579
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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