A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838709



Internal ID9986429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133784927..133786145hg38UCSC Ensembl
Outerchr3:133503771..133504989hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725943
Supporting Variants
SamplesSSM002
Known GenesSRPRB
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)essv6838709
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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