A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6898464



Internal ID10012446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:86838651..86838895hg38UCSC Ensembl
Outerchr11:86549693..86549937hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744857
Supporting Variants
SamplesSSM012
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)essv6898464
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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