A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv735e201



Internal ID20125622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43280744..43281538hg38UCSC Ensembl
chr22:43676750..43677544hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2724304, esv2724307
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM097, SSM013, SSM073, SSM093, SSM050, SSM042, SSM088, SSM023, SSM028, SSM092, SSM090, SSM021, SSM069, SSM029, SSM062, SSM026, SSM089, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM033, SSM066, SSM068, SSM040, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM055, SSM070, SSM095, SSM025, SSM099, SSM043, SSM098, SSM049, SSM056, SSM063
Known GenesSCUBE1
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)dgv735e201
Frequency
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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