A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6802303



Internal ID10207100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:174265125..174265509hg38UCSC Ensembl
Outerchr4:175186276..175186660hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728766
Supporting Variants
SamplesSSM073
Known GenesFBXO8
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)essv6802303
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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