A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv147e201



Internal ID20125034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107007852..107008269hg38UCSC Ensembl
chr11:106878578..106878995hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745041, esv2745039
SamplesSSM036, SSM083, SSM071, SSM027, SSM045, SSM064, SSM079, SSM065, SSM038, SSM097, SSM039, SSM013, SSM073, SSM074, SSM088, SSM041, SSM023, SSM028, SSM090, SSM018, SSM069, SSM029, SSM096, SSM089, SSM094, SSM014, SSM033, SSM068, SSM072, SSM016, SSM005, SSM076, SSM095, SSM034, SSM004, SSM043, SSM052
Known GenesGUCY1A2
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)dgv147e201
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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