A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873579



Internal ID9923018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58912113..59113377hg38UCSC Ensembl
Outerchr11:58679586..58880850hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38201265
hg19201265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744559
Supporting Variants
SamplesSSM091
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)essv6873579
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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