A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1270e201



Internal ID20126157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133827241..133827489hg38UCSC Ensembl
chr9:136692363..136692611hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739187, esv2739185
SamplesSSM046, SSM044, SSM081, SSM070, SSM098
Known GenesVAV2
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)dgv1270e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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