A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800135



Internal ID9855701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:107007871..107008232hg38UCSC Ensembl
Outerchr11:106878597..106878958hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745038, esv2745039
Supporting Variants
SamplesSSM072
Known GenesGUCY1A2
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)essv6800135
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