A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877627



Internal ID9926659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44404693..44405202hg38UCSC Ensembl
Outerchr21:45824576..45825085hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38510
hg19510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723638, esv2723648
Supporting Variants
SamplesSSM092
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)essv6877627
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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