A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819570



Internal ID9872533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71765868..71770735hg38UCSC Ensembl
Outerchr11:71476914..71481781hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg384868
hg194868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744759, esv2744758
Supporting Variants
SamplesSSM078
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)essv6819570
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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