A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722303



Internal ID9956602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23663504..23799391hg38UCSC Ensembl
Outerchr20:23644141..23780028hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38135888
hg19135888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744620, essv6710242, essv6721567, essv6796981, essv6840808, essv6901287, essv6868240, essv6835731, essv6807037, essv6693132, essv6696534, essv6761580, essv6735741, essv6725395, essv6871369, essv6776547, essv6971778, essv6937149, essv6945992, essv6772988, essv6928686, essv6916964, essv6758800, essv6960796, essv6780361, essv6913525, essv6967256, essv6941305, essv6846607, essv6801189, essv6716242, essv6828589, essv6863444, essv6738511, essv6843383, essv6713807, essv6874315, essv6937148, essv6840797, essv6868241, essv6898269, essv6820715, essv6688986, essv6832164, essv6950032, essv6824523, essv6784520, essv6725396, essv6843384, essv6913526, essv6858566, essv6835733, essv6824525, essv6784518, essv6729181, essv6725397, essv6692355, essv6954207, essv6925208, essv6832165, essv6735745, essv6946263, essv6946251, essv6880122, essv6925205, essv6706915, essv6971781, essv6954205, essv6928689, essv6741800, essv6735742, essv6813166, essv6780366, essv6710241, essv6780363, essv6950031, essv6816203, essv6703412, essv6780121, essv6773153, essv6753203, essv6744622, essv6780099, essv6678729, essv6766261, essv6772987, essv6753202, essv6784519, essv6717711, essv6916965, essv6839515, essv6693143, essv6792806, essv6721566, essv6696531, essv6769179, essv6685806, essv6735744, essv6699333, essv6873531, essv6812852, essv6773264, essv6852625, essv6750293, essv6914029, essv6882959, essv6733039, essv6729182, essv6843386, essv6835730, essv6880121, essv6921164, essv6674600, essv6905727, essv6858567, essv6750291, essv6941304, essv6763917, essv6852627, essv6971779, essv6807036, essv6954208, essv6788697, essv6674597, essv6741799, essv6706916, essv6725400, essv6905731, essv6902114, essv6898271, essv6813177, essv6710244, essv6928685, essv6766262, essv6703413, essv6776548, essv6960794, essv6666230, essv6868243, essv6941306, essv6682423, essv6967257, essv6885663, essv6788696, essv6713808, essv6895445, essv6784523, essv6820716, essv6692352, essv6824524, essv6685807, essv6971777, essv6868239, essv6745142, essv6937150, essv6788694, essv6913529, essv6665677, essv6780362, essv6971780, essv6796980, essv6846608, essv6706917, essv6696530, essv6721568, essv6954212, essv6816204, essv6863445, essv6820718, essv6810046, essv6692353, essv6756217, essv6750292, essv6776549, essv6763916, essv6901286, essv6729180, essv6801190, essv6945993, essv6780110, essv6772990, essv6801191, essv6745131, essv6796982, essv6796979, essv6928687, essv6832167, essv6696533, essv6678731, essv6747459, essv6666229, essv6852628, essv6914007, essv6678730, essv6706914, essv6812851, essv6688987, essv6945994, essv6967258, essv6885665, essv6788695, essv6873520, essv6780155, essv6716231, essv6682424, essv6937147, essv6693121, essv6674602, essv6932842, essv6852626, essv6914018, essv6898270, essv6745154
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesCST1, CST4
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)esv2722303
Frequency
Sample Size96
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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