A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722309



Internal ID9956608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23718851..23824974hg38UCSC Ensembl
Outerchr20:23699488..23805611hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38106124
hg19106124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6745154, essv6801192, essv6796983, essv6796981, essv6840808, essv6950033, essv6871370, essv6776550, essv6807037, essv6891993, essv6772991, essv6835734, essv6747460, essv6937149, essv6772988, essv6703414, essv6733038, essv6967256, essv6905729, essv6941305, essv6946274, essv6738511, essv6843383, essv6717712, essv6937148, essv6846609, essv6828590, essv6780132, essv6954209, essv6863446, essv6950032, essv6913526, essv6846611, essv6835733, essv6729181, essv6921165, essv6925208, essv6832165, essv6946263, essv6769181, essv6692356, essv6971781, essv6713810, essv6741800, essv6913527, essv6780366, essv6780121, essv6744622, essv6909698, essv6807038, essv6766261, essv6784519, essv6717711, essv6693143, essv6954210, essv6713811, essv6813188, essv6792806, essv6696531, essv6925206, essv6685808, essv6873531, essv6753204, essv6816205, essv6773264, essv6820717, essv6750293, essv6914029, essv6744623, essv6710245, essv6678732, essv6843386, essv6665688, essv6858567, essv6873542, essv6763917, essv6852627, essv6971779, essv6812853, essv6954208, essv6832168, essv6788697, essv6905731, essv6769180, essv6914041, essv6898271, essv6839516, essv6945995, essv6813177, essv6725398, essv6882960, essv6780143, essv6868243, essv6706918, essv6784523, essv6960797, essv6852629, essv6946285, essv6902115, essv6901289, essv6937150, essv6788694, essv6913529, essv6804139, essv6780362, essv6824526, essv6846608, essv6874316, essv6784522, essv6954212, essv6816204, essv6820718, essv6692353, essv6916966, essv6729183, essv6692357, essv6941308, essv6868244, essv6693155, essv6780110, essv6772990, essv6796982, essv6721570, essv6810047, essv6928687, essv6832167, essv6666229, essv6880123, essv6852628, essv6928688, essv6905728, essv6895446, essv6898272, essv6788698, essv6840821, essv6945994, essv6967258, essv6921166, essv6780155, essv6745165, essv6674603, essv6792807, essv6750294, essv6674602
SamplesSSM100, 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, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM063, SSM012
Known GenesCST1, CST2
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)esv2722309
Frequency
Sample Size96
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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