A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745535



Internal ID9979819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10418774..10441237hg38UCSC Ensembl
Outerchr12:10571373..10593836hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3822464
hg1922464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755516, essv6938784, essv6940310, essv6885065, essv6681548, essv6677790, essv6771686, essv6771675, essv6931811, essv6842414, essv6716769, essv6834732, essv6924308, essv6887986, essv6768481, essv6845933, essv6870699, essv6873654, essv6908473, essv6815445, essv6719486, essv6673112, essv6970962, essv6831286, essv6876639, essv6959223, essv6720659, essv6970775, essv6732098, essv6940309, essv6809347, essv6882297, essv6823600, essv6706193, essv6912567, essv6695520, essv6809348, essv6949066, essv6908833, essv6805410, essv6688261, essv6851130, essv6687098, essv6931812, essv6720660, essv6691578, essv6908462, essv6687109, essv6949065, essv6796002, essv6865377, essv6885067, essv6927905, essv6744007, essv6668200, essv6904892, essv6870700, essv6806360, essv6842415, essv6815446, essv6885066, essv6916100, essv6959222, essv6944910, essv6765752, essv6695523, essv6819660, essv6772025, essv6938773, essv6787735, essv6677789, essv6783546, essv6755517, essv6959221, essv6965738, essv6927904, essv6912569, essv6695522, essv6862338, essv6845930, essv6834743, essv6791829, essv6912568, essv6870698, essv6685060, essv6900626, essv6944908, essv6768480, essv6891259, essv6834867, essv6752549, essv6732101, essv6796004, essv6924309, essv6806358, essv6803482, essv6741048, essv6716770, essv6800193, essv6712969, essv6827681, essv6724474, essv6882296, essv6838591, essv6796003, essv6838590, essv6728314, essv6738087, essv6920145, essv6894624, essv6712968, essv6760955, essv6867115, essv6970951, essv6857151, essv6953200, essv6908451, essv6944909, essv6873652, essv6698728, essv6728313, essv6916099, essv6772026, essv6702422, essv6779437, essv6823601, essv6712967, essv6827680, essv6894625, essv6812195, essv6851129, essv6779438, essv6904891, essv6709468, essv6805377, essv6806359, essv6831288, essv6691579, essv6927903, essv6737870, essv6805388, essv6744006, essv6758210, essv6732100, essv6716768, essv6805399, essv6685059, essv6741047, essv6775677, essv6867116, essv6900627, essv6783545
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM052, SSM098, SSM030, SSM063
Known GenesKLRC2, KLRC3
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)esv2745535
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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