A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739692



Internal ID10323328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1368712..1426131hg38UCSC Ensembl
OuterchrX:1487605..1545024hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3857420
hg1957420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1299e201
Supporting Variantsessv6952390, essv6964488, essv6919357, essv6746257, essv6837890, essv6740370, essv6782695, essv6964940, essv6930957, essv6890607, essv6935225, essv6859131, essv6712301, essv6904162, essv6715984, essv6706532, essv6923518, essv6849855, essv6957787, essv6799379, essv6964487, essv6841698, essv6861422, essv6814741, essv6855895, essv6732055, essv6915477, essv6969900, essv6687645, essv6876076, essv6786910, essv6887387, essv6754905, essv6900059, essv6727586, essv6876077, essv6751945, essv6859120, essv6734661, essv6891809, essv6751946, essv6712302, essv6694702, essv6762905, essv6932529, essv6915479, essv6667801, essv6927244, essv6952389, essv6771281, essv6859098, essv6799380, essv6900060, essv6878941, essv6723711, essv6805806, essv6826880, essv6764886, essv6715986, essv6870146, essv6859109, essv6705475, essv6830615, essv6732066, essv6715985, essv6682055, essv6808774, essv6677022, essv6811672, essv6746258, essv6764897, essv6915478, essv6727585, essv6861421, essv6834205, essv6837889, essv6939498, essv6829209, essv6964489, essv6911782, essv6943972, essv6830614, essv6732044, essv6808773, essv6975620, essv6778696, essv6930956, essv6682066, essv6778695, essv6897091, essv6743472, essv6719889, essv6873133, essv6915480, essv6873134, essv6682044, essv6791007, essv6757691, essv6904161, essv6903407, essv6822866, essv6732032, essv6799266, essv6948292, essv6908060, essv6671817, essv6845345, essv6791008, essv6701567, essv6975616, essv6969899, essv6818749, essv6930955, essv6749081, essv6706543, essv6791009, essv6754904, essv6975619, essv6682077
SamplesSSM100, SSM059, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, 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, SSM025, SSM004, SSM099, SSM043, SSM052, 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)esv2739692
Frequency
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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