A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718343

Internal ID9952634
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21616278..21851531hg38UCSC Ensembl
Outerchr19:21799080..22034333hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828713, essv6788806, essv6710334, essv6868396, essv6788805, essv6914608, essv6674777, essv6880212, essv6824642, essv6852787, essv6733163, essv6766344, essv6852784, essv6885762, essv6863591, essv6880213, essv6807136, essv6735810, essv6781310, essv6780490, essv6932939, essv6843523, essv6703533, essv6689051, essv6756324, essv6666434, essv6713937, essv6784641, essv6761656, essv6858755, essv6703534, essv6960986, essv6666611, essv6753291, essv6946111, essv6773122, essv6909772, essv6729314, essv6685913, essv6797107, essv6689052, essv6766345, essv6807135, essv6871477, essv6960985, essv6721671, essv6967472, essv6780491, essv6717827, essv6685912, essv6744715, essv6696691, essv6750378, essv6792911, essv6668720, essv6839647, essv6888776, essv6784642, essv6812941, essv6954347, essv6693965, essv6892090, essv6941419, essv6678858, essv6901375, essv6810129, essv6758868, essv6892089, essv6874209, essv6692440, essv6820874, essv6707015, essv6699394, essv6804206, essv6820873, essv6769255, essv6946112, essv6824644, essv6898363, essv6725490, essv6801304, essv6967474, essv6738612, essv6858756, essv6682538, essv6937314, essv6846718, essv6863590, essv6776667
SamplesSSM065, SSM022, SSM027, SSM053, SSM086, SSM036, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM057, SSM032, SSM039, SSM045, SSM067, SSM083, SSM050, SSM097, SSM041, SSM005, SSM093, SSM100, SSM056, SSM085, SSM011, SSM066, SSM029, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM049, SSM008, SSM076, SSM058, SSM059, SSM070, SSM080
Known GenesLOC641367, ZNF100, ZNF43
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718343
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0

Hosted by The Centre for Applied Genomics
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