A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6813811



Internal ID9869226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:4396512..4396945hg38UCSC Ensembl
Outerchr4:4398239..4398672hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726967
Supporting Variants
SamplesSSM077
Known GenesNSG1
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)essv6813811
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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