A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859006



Internal ID10256590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9091251..9092733hg38UCSC Ensembl
Outerchr21:9930084..9931566hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381483
hg191483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723052, esv2723012
Supporting Variants
SamplesSSM087
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)essv6859006
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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