A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv683e201



Internal ID22760041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9062887..9082373hg38UCSC Ensembl
chr21:9901720..9921206hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3819487
hg1919487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2723049, esv2723047
SamplesSSM059, SSM036, SSM071, SSM027, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM050, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM021, SSM047, SSM069, SSM061, SSM029, SSM026, SSM017, SSM019, SSM035, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM020, SSM007, SSM015, SSM078, SSM005, SSM077, SSM022, SSM010, SSM055, SSM070, SSM025, SSM004, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesTEKT4P2
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)dgv683e201
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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