A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730970



Internal ID10314606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:159461035..159472627hg38UCSC Ensembl
Outerchr5:158888043..158899635hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3811593
hg1911593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6774483
SamplesSSM066
Known GenesLOC285627
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)esv2730970
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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