A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731047



Internal ID9965364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168746540..168746884hg38UCSC Ensembl
Outerchr5:168173545..168173889hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670927
SamplesSSM031
Known GenesSLIT3
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)esv2731047
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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