A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741278



Internal ID10295394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186627043..186627238hg38UCSC Ensembl
Outerchr4:187548197..187548392hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv863e201
Supporting Variantsessv6730555
SamplesSSM047
Known GenesFAT1
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)esv2741278
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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