A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667157



Internal ID10084250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32765270..32766560hg38UCSC Ensembl
Outerchr3:32806762..32808052hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg381291
hg191291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725112
Supporting Variants
SamplesSSM030
Known GenesCNOT10
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)essv6667157
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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