A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746430



Internal ID10327400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31578394..31579167hg38UCSC Ensembl
Outerchr1:32043995..32044768hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e201
Supporting Variantsessv6714269, essv6859210, essv6824996, essv6714270
SamplesSSM088, SSM080, SSM043
Known GenesTINAGL1
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)esv2746430
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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