A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11e201



Internal ID22759369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21980562..22005805hg38UCSC Ensembl
chr1:22307055..22332298hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3825244
hg1925244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741303, esv2741534, esv2741931, esv2745130
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesCELA3A, CELA3B
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)dgv11e201
Frequency
Sample Size96
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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