A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716672



Internal ID9781800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60329952..60330553hg38UCSC Ensembl
Outerchr11:60097425..60098026hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744570, esv2744569
Supporting Variants
SamplesSSM043
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)essv6716672
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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