A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757299



Internal ID10166083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172296553..172297259hg38UCSC Ensembl
Outerchr5:171723557..171724263hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731094
Supporting Variants
SamplesSSM059
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)essv6757299
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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