A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969241



Internal ID10075850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178301731..178302061hg38UCSC Ensembl
Outerchr5:177728732..177729062hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731222, esv2731223
Supporting Variants
SamplesSSM028
Known GenesCOL23A1
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)essv6969241
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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