A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744860



Internal ID10325830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87248167..87346100hg38UCSC Ensembl
Outerchr11:86959209..87057142hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3897934
hg1997934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851023, essv6695453, essv6681493, essv6857059, essv6976985, essv6673004, essv6885018, essv6691517, essv6944831, essv6783483
SamplesSSM036, SSM087, SSM023, SSM029, SSM031, SSM086, SSM033, SSM068, SSM037, SSM095
Known GenesTMEM135
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)esv2744860
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer