A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6894594



Internal ID9941931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124915182..125036537hg38UCSC Ensembl
Outerchr11:124785078..124906433hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38121356
hg19121356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745189
Supporting Variants
SamplesSSM098
Known GenesCCDC15, HEPACAM, HEPN1
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)essv6894594
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