A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765735



Internal ID9824925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125425875..125426891hg38UCSC Ensembl
Outerchr11:125295771..125296787hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381017
hg191017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745198, esv2745201
Supporting Variants
SamplesSSM063
Known GenesPKNOX2
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)essv6765735
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