A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921642



Internal ID9681048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44395569..44395925hg38UCSC Ensembl
Outerchr21:45815452..45815808hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723646, esv2723638
Supporting Variants
SamplesSSM017
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)essv6921642
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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