A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730756



Internal ID10314392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128688296..128688970hg38UCSC Ensembl
Outerchr5:128023989..128024663hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6926651, essv6798676, essv6947650, essv6826225
SamplesSSM024, SSM003, SSM072, SSM080
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)esv2730756
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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