A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730792



Internal ID9965109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132680635..132680789hg38UCSC Ensembl
Outerchr5:132016327..132016481hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848861, essv6963445
SamplesSSM027, SSM086
Known GenesIL4
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)esv2730792
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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