A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930080



Internal ID10039834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:174265055..174265515hg38UCSC Ensembl
Outerchr4:175186206..175186666hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728766
Supporting Variants
SamplesSSM020
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)essv6930080
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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