A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812133



Internal ID9868373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58912145..59113345hg38UCSC Ensembl
Outerchr11:58679618..58880818hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38201201
hg19201201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744559
Supporting Variants
SamplesSSM076
Known GenesFAM111B, GLYATL1, LOC283194
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)essv6812133
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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