A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728223



Internal ID9792196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58910001..59111232hg38UCSC Ensembl
Outerchr11:58677474..58878705hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38201232
hg19201232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744557, esv2744559
Supporting Variants
SamplesSSM046
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)essv6728223
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer