A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6974364



Internal ID9736856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58978007..58978602hg38UCSC Ensembl
Outerchr5:58273834..58274429hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730225
Supporting Variants
SamplesSSM029
Known GenesPDE4D
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)essv6974364
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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