A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940818



Internal ID9988880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110826994..110827608hg38UCSC Ensembl
Outerchr13:111479341..111479955hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748044
Supporting Variants
SamplesSSM003
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)essv6940818
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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