A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737731



Internal ID10321367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139872902..139872995hg38UCSC Ensembl
Outerchr8:140885146..140885239hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976108
SamplesSSM029
Known GenesTRAPPC9
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)esv2737731
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