A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675126



Internal ID9741860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44509408..44509521hg38UCSC Ensembl
Outerchr21:45929291..45929404hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723670, esv2723638
Supporting Variants
SamplesSSM031
Known GenesTSPEAR, TSPEAR-AS1
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)essv6675126
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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