A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746574



Internal ID10327544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33010776..33013245hg38UCSC Ensembl
Outerchr1:33476377..33478846hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg382470
hg192470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954776, essv6675218, essv6719087, essv6889018, essv6874724, essv6843976, essv6816876, essv6695821, essv6967955, essv6759068, essv6950407, essv6785011, essv6902373, essv6813183, essv6718175, essv6898623, essv6766563, essv6941807, essv6877677, essv6679187, essv6895858, essv6697001, essv6793314, essv6750623, essv6710608, essv6937699, essv6816606, essv6735988, essv6714272, essv6747800, essv6972387, essv6769546, essv6742159, essv6832615, essv6668980, essv6916930, essv6804415, essv6961591, essv6892334, essv6946515, essv6877054, essv6929080, essv6880433, essv6669399, essv6773456, essv6868729, essv6802820, essv6906110, essv6738825, essv6776957, essv6836205, essv6756568, essv6950586, essv6761872, essv6910068, essv6810349, essv6902558, essv6839994, essv6748621, essv6733500, essv6917456, essv6914013, essv6707281, essv6801634, essv6859212, essv6829028, essv6729646, essv6692793, essv6885995, essv6753513, essv6682842, essv6933327, essv6722022, essv6883267, essv6780894, essv6725864, essv6689282, essv6863976, essv6847046, essv6686167, essv6789178, essv6853263, essv6871733, essv6843912, essv6699612, essv6925710, essv6797471, essv6807386, essv6784832, essv6764175, essv6821198, essv6824999, essv6921744, essv6703881, essv6744957
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, 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 GenesAK2
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)esv2746574
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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