A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724358



Internal ID9788719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47541734..47541967hg38UCSC Ensembl
Outerchr11:47563286..47563519hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744439
Supporting Variants
SamplesSSM045
Known GenesCELF1
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)essv6724358
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