A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830026



Internal ID9883820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132680480..132680854hg38UCSC Ensembl
Outerchr5:132016172..132016546hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730791
Supporting Variants
SamplesSSM081
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)essv6830026
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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