A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718335

Internal ID9952626
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21518987..22435411hg38UCSC Ensembl
Outerchr19:21701789..22618213hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780489, essv6828713, essv6788806, essv6710334, essv6858753, essv6843520, essv6868396, essv6729313, essv6846716, essv6947584, essv6685911, essv6839646, essv6788805, essv6914608, essv6674777, essv6756323, essv6880212, essv6950172, essv6741887, essv6824642, essv6674779, essv6852787, essv6932941, essv6820871, essv6733163, essv6766344, essv6874231, essv6841553, essv6852784, essv6843522, essv6885762, essv6710333, essv6797105, essv6807133, essv6863591, essv6824641, essv6801303, essv6868394, essv6880213, essv6885761, essv6807136, essv6735810, essv6781310, essv6780490, essv6725489, essv6932939, essv6967471, essv6678857, essv6810128, essv6843523, essv6888775, essv6703533, essv6689051, essv6756324, essv6901378, essv6666434, essv6713937, essv6784641, essv6761656, essv6761655, essv6909774, essv6668719, essv6858755, essv6947573, essv6703534, essv6797106, essv6874430, essv6960986, essv6666611, essv6666432, essv6753291, essv6946111, essv6863589, essv6773122, essv6909772, essv6828712, essv6921333, essv6971924, essv6729314, essv6685913, essv6797107, essv6682541, essv6921332, essv6666430, essv6689052, essv6766345, essv6807135, essv6871477, essv6852785, essv6960985, essv6816315, essv6721671, essv6707014, essv6784640, essv6744716, essv6967472, essv6780491, essv6716943, essv6717827, essv6753290, essv6883057, essv6685912, essv6716909, essv6801305, essv6773121, essv6744715, essv6913665, essv6909770, essv6696691, essv6682537, essv6914597, essv6750378, essv6758867, essv6781321, essv6863592, essv6792911, essv6668720, essv6835861, essv6816316, essv6839647, essv6888776, essv6741884, essv6784642, essv6812941, essv6960983, essv6954347, essv6693965, essv6692439, essv6892090, essv6913664, essv6753289, essv6960987, essv6941419, essv6750377, essv6784639, essv6678858, essv6909769, essv6807132, essv6666431, essv6901375, essv6810129, essv6721670, essv6699393, essv6713936, essv6971925, essv6902226, essv6758868, essv6699392, essv6892089, essv6914584, essv6874209, essv6692440, essv6820874, essv6921330, essv6846715, essv6707015, essv6950173, essv6692438, essv6699394, essv6750374, essv6804206, essv6820873, essv6846714, essv6769255, essv6946112, essv6898362, essv6954345, essv6841564, essv6824644, essv6925346, essv6898363, essv6725490, essv6801304, essv6967474, essv6954346, essv6693976, essv6820872, essv6738612, essv6874198, essv6761654, essv6741883, essv6858756, essv6682538, essv6716920, essv6937314, essv6766343, essv6946116, essv6937313, essv6846718, essv6868395, essv6863590, essv6914619, essv6745987, essv6954344, essv6820875, essv6776667
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM053, SSM082, SSM086, SSM006, SSM036, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM057, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM018, SSM076, SSM058, SSM059, SSM070, SSM080
Known GenesLOC641367, ZNF100, ZNF208, ZNF257, ZNF429, ZNF43, ZNF676, ZNF729, ZNF98
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718335
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0

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