A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743980



Internal ID9806424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124960050..124960913hg38UCSC Ensembl
Outerchr11:124829946..124830809hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745189, esv2745190
Supporting Variants
SamplesSSM053
Known GenesCCDC15
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)essv6743980
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