A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744594



Internal ID9978878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61974297..61974560hg38UCSC Ensembl
Outerchr11:61741769..61742032hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800090, essv6809277, essv6927828
SamplesSSM075, SSM019, SSM072
Known Genes
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)esv2744594
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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