A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723192



Internal ID9957492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:16398054..17697109hg38UCSC Ensembl
Outerchr21:17770374..19069427hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381299056
hg191299054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783576, essv6917306, essv6666764, essv6902420, essv6821061, essv6972158, essv6941655, essv6909939, essv6885902, essv6859037, essv6753430, essv6921608, essv6898525, essv6925576, essv6776813, essv6692640, essv6906012, essv6875853, essv6769417, essv6695176, essv6836055, essv6843775, essv6853066, essv6875864, essv6747700, essv6807289, essv6793160, essv6898524, essv6816479, essv6714117, essv6718045, essv6906013, essv6859034, essv6832462, essv6859036, essv6675058, essv6761788, essv6925577, essv6675059, essv6797321, essv6972159, essv6744868, essv6784852, essv6950416, essv6801512, essv6710491, essv6913880, essv6843774, essv6780725, essv6807290, essv6859035, essv6742055, essv6696900, essv6949185, essv6747701, essv6961321, essv6902418, essv6718265, essv6874621, essv6742053, essv6967757, essv6815976, essv6954566, essv6946354, essv6941652, essv6888918, essv6733386, essv6696899, essv6721873, essv6756468, essv6675060, essv6807291, essv6773332, essv6776814, essv6853064, essv6824849, essv6913881, essv6961320, essv6941654, essv6836056, essv6797319, essv6950415, essv6668835, essv6883183, essv6668454, essv6913879, essv6789009, essv6859033, essv6937543, essv6941653, essv6949196, essv6795042, essv6682739, essv6933178, essv6804333, essv6733385, essv6874619, essv6853067, essv6892214, essv6916007, essv6679037, essv6843110, essv6921606, essv6750522, essv6668465, essv6707181, essv6766469, essv6729502, essv6846888, essv6961322, essv6776812, essv6764114, essv6784851, essv6725719, essv6946355, essv6937544
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM013, SSM009, SSM073, SSM074, SSM042, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM056, SSM030, SSM063, SSM012
Known GenesBTG3, C21orf37, CXADR, LINC00478, MIR125B2, MIR99A, MIRLET7C
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)esv2723192
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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