A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746841



Internal ID10327811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36283133..36283935hg38UCSC Ensembl
Outerchr1:36748734..36749536hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38803
hg19803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703883, essv6789180, essv6929086, essv6877076, essv6780900, essv6699615, essv6921747, essv6917461, essv6885996, essv6916952, essv6972391, essv6722025, essv6692796, essv6679193, essv6847048, essv6821200, essv6933330, essv6793315, essv6967958, essv6910071, essv6689283, essv6853267, essv6813187
SamplesSSM036, SSM071, SSM045, SSM079, SSM087, SSM039, SSM028, SSM021, SSM018, SSM029, SSM096, SSM017, SSM003, SSM086, SSM033, SSM068, SSM040, SSM020, SSM015, SSM037, SSM077, SSM070, SSM012
Known GenesTHRAP3
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)esv2746841
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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