A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928990



Internal ID9691489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44422810..44423176hg38UCSC Ensembl
Outerchr21:45842693..45843059hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723638, esv2723655
Supporting Variants
SamplesSSM019
Known GenesTRPM2
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)essv6928990
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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