A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955988



Internal ID9718074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1671283..1671560hg38UCSC Ensembl
Outerchr4:1673010..1673287hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726828
Supporting Variants
SamplesSSM026
Known GenesFAM53A
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)essv6955988
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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