A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731099



Internal ID10314735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172484482..172484905hg38UCSC Ensembl
Outerchr5:171911486..171911909hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv960e201
Supporting Variantsessv6969226, essv6881307, essv6833649
SamplesSSM028, SSM094, SSM082
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)esv2731099
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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