A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722304



Internal ID9956603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23689050..23768689hg38UCSC Ensembl
Outerchr20:23669687..23749326hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3879640
hg1979640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv653e201
Supporting Variantsessv6744620, essv6710242, essv6901287, essv6868240, essv6835731, essv6693132, essv6696534, essv6761580, essv6735741, essv6871369, essv6776547, essv6971778, essv6945992, essv6928686, essv6916964, essv6758800, essv6960796, essv6846607, essv6801189, essv6828589, essv6863444, essv6713807, essv6874315, essv6840797, essv6868241, essv6898269, essv6832164, essv6824523, essv6784520, essv6843384, essv6692355, essv6954207, essv6735745, essv6946251, essv6880122, essv6706915, essv6735742, essv6813166, essv6780363, essv6950031, essv6816203, essv6703412, essv6773153, essv6753203, essv6772987, essv6916965, essv6839515, essv6769179, essv6685806, essv6735744, essv6699333, essv6812852, essv6852625, essv6882959, essv6733039, essv6729182, essv6835730, essv6880121, essv6921164, essv6674600, essv6905727, essv6750291, essv6807036, essv6674597, essv6741799, essv6725400, essv6902114, essv6710244, essv6928685, essv6766262, essv6703413, essv6776548, essv6960794, essv6941306, essv6682423, essv6967257, essv6885663, essv6788696, essv6713808, essv6895445, essv6820716, essv6824524, essv6685807, essv6971777, essv6868239, essv6745142, essv6796980, essv6721568, essv6863445, essv6810046, essv6756217, essv6750292, essv6763916, essv6901286, essv6801190, essv6945993, essv6801191, essv6745131, essv6796979, essv6678731, essv6747459, essv6914007, essv6706914, essv6812851, essv6885665, essv6788695, essv6873520, essv6716231, essv6682424, essv6693121, essv6932842, essv6852626, essv6914018, essv6898270
SamplesSSM100, SSM059, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM038, SSM039, SSM013, SSM009, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM047, SSM069, SSM061, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM034, SSM099, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesCST1
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)esv2722304
Frequency
Sample Size96
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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