A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735148



Internal ID10318784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129415758..129417009hg38UCSC Ensembl
Outerchr7:129055599..129056850hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802829, essv6799231, essv6930820, essv6878870, essv6943828, essv6740288, essv6814640, essv6712171, essv6939380, essv6763864, essv6719779, essv6798453, essv6705843, essv6727466, essv6705353, essv6919212, essv6676918, essv6849689, essv6723575, essv6826760, essv6976261, essv6731213, essv6698139, essv6931695, essv6870059, essv6731231, essv6818644, essv6743405, essv6964106, essv6902652, essv6762843, essv6746184, essv6795024, essv6866018, essv6887292, essv6890732, essv6904039, essv6778552, essv6684309, essv6948161, essv6811589, essv6754818, essv6858198, essv6855751, essv6690783, essv6830503, essv6935098, essv6899982, essv6834105, essv6786771, essv6790874, essv6893856, essv6737223, essv6907944, essv6681388, essv6694575, essv6782548, essv6897015, essv6964288, essv6884490, essv6734593, essv6841572, essv6837775, essv6875998, essv6708727, essv6715850, essv6805730, essv6760297, essv6845233, essv6861302, essv6757620, essv6952264, essv6873046, essv6927121
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM087, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM058, SSM092, SSM084, SSM090, SSM021, SSM047, SSM069, SSM061, SSM096, SSM062, SSM089, SSM017, SSM019, SSM032, SSM003, SSM067, SSM044, SSM001, SSM014, SSM086, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM012
Known GenesAHCYL2
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)esv2735148
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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