A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv532e201



Internal ID20125419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55203948..55204296hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718900, esv2718898, esv2718902, esv2718894, esv2718904
SamplesSSM071, SSM027, SSM045, SSM079, SSM039, SSM073, SSM074, SSM088, SSM023, SSM028, SSM090, SSM096, SSM026, SSM089, SSM094, SSM032, SSM031, SSM014, SSM086, SSM072, SSM078, SSM005, SSM080, SSM034, SSM098
Known Genes
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)dgv532e201
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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