A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740476



Internal ID10324112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130529919..130530931hg38UCSC Ensembl
OuterchrX:129663893..129664905hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg381013
hg191013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767952, essv6887426, essv6682587, essv6707031, essv6754959, essv6944063, essv6690964, essv6822921, essv6775069, essv6964591, essv6884612, essv6834264, essv6737365, essv6814795, essv6799966, essv6975764, essv6837940, essv6805853, essv6915531, essv6957934, essv6876135, essv6795225, essv6878990, essv6701646, essv6969972, essv6708894, essv6908150, essv6830677, essv6859809, essv6743518, essv6904018, essv6808816, essv6740438, essv6749146, essv6802972, essv6952472, essv6677154, essv6687716, essv6841755, essv6765532, essv6752016, essv6732821, essv6923582, essv6731397, essv6931036, essv6856030, essv6850003, essv6723793, essv6727638, essv6965572, essv6782775, essv6719979, essv6892698, essv6873174, essv6894012, essv6919416, essv6904237, essv6694762, essv6911869, essv6897132, essv6861496, essv6716063, essv6760439, essv6705557, essv6799445, essv6778752, essv6933017, essv6791090, essv6939572, essv6845401, essv6811716, essv6927304, essv6667862, essv6786989, essv6712353, essv6671928, essv6746311, essv6870201, essv6935290, essv6677074, essv6680917, essv6948353
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, 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, SSM026, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, 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)esv2740476
Frequency
Sample Size96
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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