A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743934



Internal ID10324904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1432793..1433079hg38UCSC Ensembl
Outerchr11:1454023..1454309hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677623, essv6856902, essv6965471, essv6771884, essv6850872, essv6720507, essv6882174, essv6866885, essv6709375
SamplesSSM027, SSM065, SSM087, SSM089, SSM094, SSM032, SSM044, SSM001, SSM086
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)esv2743934
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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