A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730196



Internal ID10313832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56282635..56283020hg38UCSC Ensembl
Outerchr5:55578462..55578847hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930234
SamplesSSM020
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)esv2730196
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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