A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723814



Internal ID10307450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45859147..45859305hg38UCSC Ensembl
Outerchr21:47279061..47279219hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721937, essv6876264
SamplesSSM011, SSM044
Known GenesPCBP3
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)esv2723814
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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