A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859958



Internal ID9913541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133967772..133967866hg38UCSC Ensembl
Outerchr3:133686616..133686710hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725944, esv2725945
Supporting Variants
SamplesSSM088
Known GenesSLCO2A1
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)essv6859958
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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