A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828926



Internal ID9882830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44428643..44428854hg38UCSC Ensembl
Outerchr21:45848526..45848737hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723656, esv2723638, esv2723657
Supporting Variants
SamplesSSM080
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)essv6828926
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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