A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719883



Internal ID9954177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32999386..33002213hg38UCSC Ensembl
Outerchr2:33224453..33227280hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382828
hg192828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683071, essv6745264, essv6789479, essv6816917, essv6889252, essv6821460, essv6879265, essv6925951, essv6769834, essv6710863, essv6853668, essv6699929, essv6729906, essv6917736, essv6868941, essv6950852, essv6874936, essv6871935, essv6804631, essv6962009, essv6718446, essv6914225, essv6877863, essv6952607, essv6902803, essv6896047, essv6818887, essv6883459, essv6946782, essv6745152, essv6697185, essv6726130, essv6733684, essv6759280, essv6922033, essv6756744, essv6933623, essv6801834, essv6919285, essv6742369, essv6787054, essv6929397, essv6671454, essv6762013, essv6686387, essv6764358, essv6689530, essv6697610, essv6807590, essv6886199, essv6751109, essv6844117, essv6722282, essv6864310, essv6669430, essv6707529, essv6810540, essv6937980, essv6968272, essv6785314, essv6859514, essv6942129, essv6829266, essv6955242, essv6777220, essv6720944, essv6832851, essv6836472, essv6818486, essv6773723, essv6679468, essv6813423, essv6667047, essv6736200, essv6748004, essv6972870, essv6750814, essv6906380, essv6825294, essv6675484, essv6898834
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM006, SSM036, SSM055, SSM091, SSM033, SSM061, SSM099, SSM042, SSM078, SSM088, SSM089, SSM090, SSM031, SSM035, SSM025, SSM020, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM049, SSM008, SSM018, SSM076, SSM059, SSM081, SSM070, SSM080
Known GenesLTBP1
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)esv2719883
Frequency
Sample Size96
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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