A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793465



Internal ID9658902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132680458..132681029hg38UCSC Ensembl
Outerchr5:132016150..132016721hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730791
Supporting Variants
SamplesSSM009
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)essv6793465
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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