A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745493



Internal ID10326463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7778330..7906182hg38UCSC Ensembl
Outerchr12:7930926..8058778hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38127853
hg19127853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779431, essv6904887, essv6924299, essv6749660, essv6838581, essv6834857, essv6702418, essv6894614, essv6687031, essv6862334, essv6873644, essv6882290, essv6687043, essv6908823, essv6959212, essv6953190, essv6870692, essv6668194, essv6805288, essv6695513, essv6900617, essv6867108, essv6783537, essv6795995, essv6834665, essv6823594, essv6953189, essv6712961, essv6755508, essv6681539, essv6737864, essv6898977, essv6805299, essv6944900, essv6809343, essv6791822, essv6691568, essv6894615, essv6812191, essv6936091, essv6800185, essv6763367, essv6908825, essv6865299, essv6927900, essv6908822, essv6898955, essv6720650, essv6712960, essv6706186, essv6927899, essv6867106, essv6842404, essv6724469, essv6688256, essv6744001, essv6891246, essv6827673, essv6688255, essv6760945, essv6668193, essv6897620, essv6912559, essv6809341, essv6795994, essv6728303, essv6938673, essv6758203, essv6851123, essv6879465, essv6845925, essv6724467, essv6738020, essv6827672, essv6772019, essv6716761, essv6936092, essv6870693, essv6783536, essv6702417, essv6728304, essv6716762, essv6775669, essv6768471, essv6771598, essv6944899, essv6718598, essv6728302, essv6746813, essv6898966, essv6763366, essv6894613, essv6845924, essv6803475, essv6709460, essv6970895, essv6887982, essv6900619, essv6779430, essv6819655, essv6724468, essv6904884, essv6831280, essv6857144, essv6673107, essv6815437, essv6800183, essv6931804, essv6838582, essv6763368, essv6940299, essv6765744, essv6936090, essv6965731, essv6920130, essv6720649, essv6706185, essv6695514, essv6681538, essv6795996, essv6965730, essv6867107, essv6823593, essv6771586, essv6677784, essv6838583, essv6718820, essv6908385, essv6887983, essv6879463, essv6677783, essv6687020, essv6755511, essv6720651, essv6709459, essv6752544, essv6732091, essv6916092, essv6710855, essv6882293, essv6695515, essv6873643, essv6779428, essv6755509, essv6885059, essv6741041, essv6787725, essv6691566, essv6900618, essv6891248, essv6857145, essv6735152, essv6718709, essv6940298, essv6812193, essv6862333, essv6845926, essv6827674, essv6867105, essv6949057, essv6870694, essv6831281, essv6685055, essv6760946, essv6920131, essv6842403, essv6691567, essv6908824, essv6970767, essv6779429, essv6775668, essv6744000, essv6977116, essv6765745, essv6882292, essv6803477, essv6787724, essv6908374, essv6712959, essv6806352, essv6673106, essv6891247, essv6882291, essv6865288, essv6876634, essv6916091, essv6800184, essv6851124, essv6812192, essv6791819, essv6904886, essv6685053
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, 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, SSM062, SSM026, SSM089, SSM017, 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, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesNANOG, SLC2A14
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)esv2745493
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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