A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743924



Internal ID9978208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1412046..1412212hg38UCSC Ensembl
Outerchr11:1433276..1433442hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129e201
Supporting Variantsessv6815296
SamplesSSM077
Known GenesBRSK2
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)esv2743924
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