A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747325



Internal ID9981609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43753933..43754264hg38UCSC Ensembl
Outerchr13:44328069..44328400hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741208
SamplesSSM052
Known GenesENOX1
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)esv2747325
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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