A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719922



Internal ID10303558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36505379..36505726hg38UCSC Ensembl
Outerchr2:36732522..36732869hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707537, essv6777227, essv6720999, essv6892591, essv6816923, essv6769837, essv6669440, essv6736203, essv6874940, essv6933628, essv6896051, essv6942137, essv6781196, essv6729913, essv6764362, essv6925955, essv6972879, essv6704116, essv6801837, essv6929400, essv6718454, essv6745157, essv6902806, essv6917741, essv6844125, essv6759283, essv6910356, essv6950858, essv6962015, essv6877867, essv6733688, essv6739077, essv6810544, essv6751165, essv6766761, essv6756749, essv6679472, essv6868945, essv6818931, essv6726135, essv6946790, essv6922041, essv6955253, essv6919318, essv6742373, essv6714545, essv6722286, essv6818920, essv6762016, essv6773727, essv6797773, essv6671499, essv6793612, essv6871938, essv6750817, essv6879320, essv6689536, essv6898840, essv6693107, essv6968278, essv6832856, essv6785320, essv6748008, essv6789482, essv6853674, essv6667051, essv6883463, essv6840268, essv6697632, essv6804638, essv6952651, essv6748597, essv6710870
SamplesSSM100, SSM059, SSM036, SSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM064, SSM065, SSM087, SSM013, SSM073, SSM093, SSM050, SSM074, SSM042, SSM002, SSM041, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM031, SSM067, SSM044, SSM001, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM005, SSM037, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCRIM1
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)esv2719922
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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