A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886308



Internal ID10013540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:85518489..85518893hg38UCSC Ensembl
Outerchr5:84814307..84814711hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730412
Supporting Variants
SamplesSSM012
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)essv6886308
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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