A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785601



Internal ID10190522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52675821..52676151hg38UCSC Ensembl
Outerchr3:52709837..52710167hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725278
Supporting Variants
SamplesSSM069
Known GenesPBRM1
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)essv6785601
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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