A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744369



Internal ID10325339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:37940514..37940808hg38UCSC Ensembl
Outerchr11:37962064..37962358hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850950, essv6866946
SamplesSSM089, SSM086
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)esv2744369
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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