A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673004



Internal ID10090455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87253649..87253701hg38UCSC Ensembl
Outerchr11:86964691..86964743hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744861, esv2744862, esv2744860, esv2744865
Supporting Variants
SamplesSSM031
Known GenesTMEM135
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)essv6673004
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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