A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2728480

Internal ID9962794
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143884064..144134952hg38UCSC Ensembl
Outerchr4:144805217..145056105hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2728480
Sample Size96
Observed Gain0
Observed Loss90
Observed Complex0

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