A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739686



Internal ID10323322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1368589..1426126hg38UCSC Ensembl
OuterchrX:1487482..1545019hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3857538
hg1957538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1299e201
Supporting Variantsessv6952390, essv6964488, essv6919357, essv6746257, essv6943971, essv6837890, essv6740370, essv6799378, essv6782695, essv6964940, essv6930957, essv6890607, essv6935225, essv6859131, essv6712301, essv6904162, essv6715984, essv6706532, essv6923518, essv6849855, essv6957787, essv6799379, essv6964487, essv6841698, essv6861422, essv6814741, essv6694701, essv6855895, essv6732055, essv6915477, essv6969900, essv6826879, essv6705474, essv6687645, essv6876076, essv6786910, essv6727584, essv6802915, essv6975618, essv6887387, essv6754905, essv6948291, essv6900059, essv6727586, essv6808772, essv6876077, essv6751945, essv6859120, essv6734661, essv6891809, essv6751946, essv6712302, essv6694702, essv6762905, essv6932529, essv6915479, essv6667801, essv6927244, essv6952389, essv6771281, essv6859098, essv6799380, essv6900060, essv6878941, essv6723711, essv6778694, essv6805806, essv6826880, essv6764886, essv6701566, essv6893966, essv6715986, essv6870146, essv6859109, essv6705475, essv6830615, essv6849853, essv6732066, essv6715985, essv6682055, essv6808774, essv6677022, essv6811672, essv6746258, essv6764897, essv6915478, essv6727585, essv6861421, essv6834205, essv6837889, essv6939498, essv6829209, essv6964489, essv6911782, essv6943972, essv6830614, essv6732044, essv6808773, essv6975620, essv6814740, essv6778696, essv6930956, essv6682066, essv6778695, essv6897091, essv6822864, essv6743472, essv6719889, essv6873133, essv6723708, essv6915480, essv6873134, essv6682044, essv6927243, essv6791007, essv6757691, essv6904161, essv6903407, essv6822866, essv6732032, essv6799266, essv6948292, essv6908060, essv6671817, essv6845345, essv6791008, essv6701567, essv6975616, essv6969899, essv6897090, essv6818749, essv6930955, essv6749081, essv6706543, essv6904160, essv6791009, essv6884566, essv6754904, essv6975619, essv6690892, essv6682077
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, 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, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM012
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
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)esv2739686
Frequency
Sample Size96
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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