A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741666



Internal ID10295782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119529983..119592932hg38UCSC Ensembl
Outerchr1:120072606..120135555hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3862950
hg1962950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv32e201
Supporting Variantsessv6773530
SamplesSSM066
Known GenesHSD3BP4
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)esv2741666
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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