A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2719883

Internal ID9954177
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32999386..33002213hg38UCSC Ensembl
Outerchr2:33224453..33227280hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2719883
Sample Size96
Observed Gain0
Observed Loss81
Observed Complex0

Hosted by The Centre for Applied Genomics
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