A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731216



Internal ID10314852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178195380..178196857hg38UCSC Ensembl
Outerchr5:177622381..177623858hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818053, essv6704882
SamplesSSM040, SSM078
Known Genes
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)esv2731216
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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