A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740573



Internal ID10324209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146861546..146862437hg38UCSC Ensembl
OuterchrX:145943064..145943955hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964602, essv6701657, essv6677710, essv6834273, essv6935294, essv6712359, essv6746316, essv6671947, essv6765350, essv6904249, essv6808825, essv6749157, essv6757770, essv6705569, essv6667869, essv6791104, essv6737374, essv6923588, essv6743524, essv6719991, essv6723804, essv6969980, essv6887434, essv6829943, essv6690971, essv6754968, essv6927313, essv6799453, essv6892765, essv6850021, essv6716071, essv6765621, essv6760448, essv6680925, essv6677083, essv6915536, essv6904063, essv6859920, essv6740449, essv6800066, essv6952481, essv6845408, essv6870207, essv6881817, essv6762956, essv6861511, essv6775076, essv6707098, essv6682665, essv6856051, essv6944079, essv6802980, essv6931049, essv6687725, essv6732932, essv6965628, essv6876140, essv6734729, essv6786997, essv6948361, essv6818839, essv6795241, essv6767961, essv6884618, essv6837947, essv6908167, essv6933084, essv6782783, essv6727649, essv6830682, essv6822926, essv6708902, essv6866244, essv6826953, essv6975781, essv6698277, essv6957950, essv6814802, essv6939582, essv6911877, essv6778758
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM050, SSM042, SSM088, SSM002, SSM041, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, 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, SSM077, SSM022, SSM010, SSM055, SSM070, SSM095, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known Genes
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)esv2740573
Frequency
Sample Size96
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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