A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723050



Internal ID10306686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9080697..9080998hg38UCSC Ensembl
Outerchr21:9919530..9919831hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821047, essv6747686, essv6937527, essv6738728, essv6756458
SamplesSSM050, SSM058, SSM021, SSM078, SSM055
Known GenesTEKT4P2
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)esv2723050
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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