A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722072



Internal ID10305708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1580365..1613521hg38UCSC Ensembl
Outerchr20:1561011..1594167hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3833157
hg1933157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784484, essv6766246, essv6666178, essv6688963, essv6771931, essv6863412, essv6788668, essv6843363, essv6780342, essv6946085, essv6801165, essv6873276, essv6692329, essv6713784, essv6932814, essv6960757, essv6810028, essv6839484, essv6747440, essv6763904, essv6846590, essv6741781, essv6967220, essv6925184, essv6913863, essv6710218, essv6721540, essv6928664, essv6880103, essv6761567, essv6898254, essv6753188, essv6820680, essv6735724, essv6685782, essv6891975, essv6852572, essv6950009, essv6874300, essv6779899, essv6913503, essv6882939, essv6792778, essv6738492, essv6744943, essv6921142, essv6941281, essv6824494, essv6756201, essv6696498, essv6937122, essv6725361, essv6945959, essv6758785, essv6954186, essv6871351, essv6877322, essv6858536, essv6796947, essv6744606, essv6733019, essv6699312, essv6682402, essv6717691, essv6835707, essv6816183, essv6807015, essv6895422, essv6769166, essv6902095, essv6665511, essv6868205, essv6716120, essv6692965, essv6812998, essv6703381, essv6678698, essv6668643, essv6750273, essv6706896
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM009, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM067, SSM044, SSM001, SSM086, SSM033, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM005, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesSIRPB1
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)esv2722072
Frequency
Sample Size96
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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