A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912438



Internal ID10021955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:31372246..31376209hg38UCSC Ensembl
Outerchr11:31393793..31397756hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg383964
hg193964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744311
Supporting Variants
SamplesSSM015
Known GenesDNAJC24
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)essv6912438
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