A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725942



Internal ID9960248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133603653..133605395hg38UCSC Ensembl
Outerchr3:133322497..133324239hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6878107, essv6836757
SamplesSSM083, SSM093
Known GenesTOPBP1
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)esv2725942
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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