A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1018e201



Internal ID20125905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136278887..136289701hg38UCSC Ensembl
chr6:136600025..136610839hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3810815
hg1910815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2732762, esv2741022
SamplesSSM045, SSM079, SSM038, SSM039, SSM088, SSM023, SSM028, SSM084, SSM047, SSM096, SSM089, SSM017, SSM094, SSM031, SSM067, SSM006, SSM068, SSM072, SSM082, SSM020, SSM005, SSM076, SSM091, SSM070, SSM034, SSM004, SSM043
Known GenesBCLAF1
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)dgv1018e201
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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