A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681695



Internal ID9751138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19403412..19403925hg38UCSC Ensembl
Outerchr13:19977552..19978065hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747055, esv2747051
Supporting Variants
SamplesSSM033
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)essv6681695
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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