A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv438e201



Internal ID22759796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82764804..82765377hg38UCSC Ensembl
chr17:80722680..80723253hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2716537, esv2716534, esv2716531
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM073, SSM093, SSM074, SSM088, SSM002, SSM041, SSM023, SSM090, SSM069, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM068, SSM081, SSM072, SSM078, SSM016, SSM005, SSM080, SSM037, SSM076, SSM091, SSM095, SSM099, SSM098
Known GenesTBCD
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)dgv438e201
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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