A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742159



Internal ID9976443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23845863..23848612hg38UCSC Ensembl
Outerchr1:24172353..24175102hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382750
hg192750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829014
SamplesSSM081
Known GenesFUCA1
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)esv2742159
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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