A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722308



Internal ID9956607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23711759..23891211hg38UCSC Ensembl
Outerchr20:23692396..23871848hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38179453
hg19179453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv654e201
Supporting Variantsessv6745154, essv6721569, essv6801192, essv6796983, essv6744624, essv6693166, essv6721567, essv6796981, essv6840808, essv6950033, essv6871370, essv6776550, essv6807037, essv6891993, essv6772991, essv6835734, essv6747460, essv6937149, essv6772988, essv6703414, essv6733038, essv6945997, essv6967256, essv6905729, essv6941305, essv6858568, essv6946274, essv6810048, essv6666231, essv6738511, essv6843383, essv6773375, essv6717712, essv6937148, essv6846609, essv6828590, essv6780132, essv6954209, essv6871371, essv6863446, essv6950032, essv6725396, essv6913526, essv6846611, essv6835733, essv6824525, essv6729181, essv6921165, essv6925208, essv6832165, essv6946263, essv6913531, essv6769181, essv6813199, essv6692356, essv6971781, essv6839517, essv6921167, essv6753205, essv6713810, essv6741800, essv6913527, essv6780366, essv6710241, essv6895447, essv6780121, essv6744622, essv6909698, essv6807038, essv6766263, essv6766261, essv6784519, essv6717711, essv6693143, essv6954210, essv6713811, essv6813188, essv6792806, essv6696531, essv6925206, essv6784524, essv6685808, essv6735747, essv6713812, essv6873531, essv6820721, essv6753204, essv6816205, essv6773264, essv6820717, essv6750293, essv6914029, essv6744623, essv6710245, essv6678732, essv6843386, essv6665688, essv6858567, essv6780166, essv6873542, essv6843385, essv6874317, essv6763917, essv6852627, essv6971779, essv6812853, essv6954208, essv6832168, essv6788697, essv6905731, essv6769180, essv6914041, essv6898271, essv6839516, essv6745176, essv6945995, essv6813177, essv6835735, essv6804140, essv6725398, essv6882960, essv6772989, essv6909699, essv6780364, essv6902116, essv6780367, essv6780143, essv6721571, essv6868243, essv6706918, essv6916967, essv6932844, essv6784523, essv6960797, essv6852629, essv6758801, essv6946285, essv6902115, essv6901289, essv6885667, essv6937150, essv6788694, essv6913529, essv6804141, essv6804139, essv6846612, essv6780362, essv6824526, essv6846608, essv6706917, essv6874316, essv6913532, essv6784522, essv6954212, essv6816204, essv6820718, essv6692353, essv6916966, essv6706919, essv6750295, essv6885666, essv6776549, essv6729183, essv6692357, essv6941308, essv6945998, essv6868244, essv6674601, essv6693155, essv6950035, essv6839518, essv6780110, essv6772990, essv6828591, essv6796982, essv6721570, essv6810047, essv6928687, essv6913528, essv6905732, essv6954211, essv6801193, essv6932843, essv6820719, essv6832167, essv6666229, essv6880123, essv6852628, essv6928688, essv6905728, essv6678730, essv6835736, essv6895446, essv6898272, essv6788698, essv6840821, essv6688987, essv6945994, essv6967258, essv6735746, essv6921166, essv6780155, essv6745165, essv6674603, essv6946296, essv6792807, essv6937147, essv6692358, essv6950034, essv6750294, essv6721572, essv6674602
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, 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, CST2, CST5
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)esv2722308
Frequency
Sample Size96
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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