A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728480



Internal ID9962794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143884064..144134952hg38UCSC Ensembl
Outerchr4:144805217..145056105hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38250889
hg19250889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924619, essv6924707, essv6725521, essv6878318, essv6704647, essv6759716, essv6840860, essv6770406, essv6857820, essv6833419, essv6730499, essv6762385, essv6869407, essv6798439, essv6840862, essv6745627, essv6926465, essv6742811, essv6701188, essv6854616, essv6751283, essv6951497, essv6907091, essv6722878, essv6899363, essv6907092, essv6693757, essv6844607, essv6805115, essv6805116, essv6865116, essv6805118, essv6817703, essv6686912, essv6808111, essv6757124, essv6951498, essv6968927, essv6925595, essv6910924, essv6963029, essv6794272, essv6817702, essv6942901, essv6762384, essv6693758, essv6848494, essv6886688, essv6748437, essv6833420, essv6889837, essv6774261, essv6686913, essv6730497, essv6697641, essv6810998, essv6907090, essv6676135, essv6829808, essv6881134, essv6934264, essv6726752, essv6777780, essv6811000, essv6951500, essv6957440, essv6844612, essv6963027, essv6726756, essv6756832, essv6785992, essv6918342, essv6869406, essv6934265, essv6711478, essv6791933, essv6739616, essv6745628, essv6963030, essv6767217, essv6869408, essv6925151, essv6790115, essv6675654, essv6719019, essv6700605, essv6844611, essv6922682, essv6751285, essv6938591, essv6822073, essv6872433, essv6974036, essv6805119, essv6907088, essv6813975, essv6829807, essv6918341, essv6822072, essv6854617, essv6903369, essv6926466, essv6745623, essv6742814, essv6872432, essv6865117, essv6726755, essv6725543, essv6926468, essv6860332, essv6722879, essv6754201, essv6956321, essv6680039, essv6748440, essv6840861, essv6725532, essv6762386, essv6903368, essv6924630, essv6938590, essv6858153, essv6907089, essv6708064, essv6893127, essv6924641, essv6858042, essv6884631, essv6697642, essv6925484, essv6759719, essv6794271, essv6957418, essv6726753, essv6942900, essv6690079, essv6700604, essv6924818, essv6751284, essv6903370, essv6802282, essv6798438, essv6715115, essv6777781, essv6781817, essv6726757, essv6974037, essv6810997, essv6893126, essv6947415, essv6751282, essv6918345, essv6725554, essv6893125, essv6922684, essv6947414, essv6968926, essv6683637, essv6823077, essv6956322, essv6667335, essv6875395, essv6884642, essv6848493, essv6762383, essv6837058, essv6725565, essv6918343, essv6899362, essv6925262, essv6690078, essv6884653, essv6701210, essv6910923, essv6914748, essv6722877, essv6701199, essv6791920, essv6951499, essv6925040, essv6930047, essv6865118, essv6736652, essv6825985, essv6878319, essv6957429, essv6860334, essv6922683, essv6756776, essv6899361, essv6918344, essv6942902, essv6715114, essv6844608, essv6889838, essv6745622, essv6785993, essv6756787, essv6756821, essv6697644, essv6756809
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesGYPA, GYPB, GYPE
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)esv2728480
Frequency
Sample Size96
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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