A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731488



Internal ID9965806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3155434..3180070hg38UCSC Ensembl
Outerchr6:3155668..3180304hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3824637
hg1924637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875614, essv6918644, essv6767429, essv6944261, essv6884128, essv6837327, essv6754446, essv6830089, essv6903635, essv6899597, essv6727754, essv6778085, essv6745877, essv6848971, essv6680304, essv6918645, essv6956848, essv6837326, essv6702943, essv6963572, essv6782083, essv6938890, essv6927274, essv6805325, essv6680303, essv6736890, essv6959707, essv6930353, essv6802492, essv6951776, essv6896692, essv6887286, essv6855089, essv6818086, essv6723134, essv6743062, essv6890116, essv6808305, essv6790405, essv6872640, essv6865466, essv6759948, essv6875613, essv6943258, essv6794551, essv6825131, essv6969258, essv6818088, essv6730784, essv6690331, essv6700947, essv6704896, essv6947705, essv6745878, essv6969259, essv6855088, essv6814228, essv6748662, essv6778084, essv6764927, essv6702954, essv6774526, essv6759620, essv6754445, essv6934611, essv6734272, essv6844808, essv6841150, essv6934610, essv6734273, essv6727765, essv6841149, essv6830088, essv6974622, essv6956849, essv6896693, essv6667492, essv6926693, essv6951777, essv6739889, essv6974621, essv6911227, essv6794109, essv6877042, essv6739890, essv6944372, essv6759949, essv6844810, essv6770694, essv6694059, essv6926694, essv6767428, essv6825142, essv6757323, essv6730783, essv6922956, essv6751514, essv6757322, essv6677511, essv6877153, essv6762547, essv6860696, essv6907431, essv6790406, essv6786285, essv6704897, essv6715405, essv6833679, essv6770695, essv6959695, essv6914989, essv6759609, essv6938889, essv6782084, essv6743063, essv6774527, essv6963571, essv6911226, essv6727033, essv6914990, essv6667493, essv6947704, essv6903636, essv6715404, essv6794120
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM050, SSM074, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM003, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesTUBB2A
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)esv2731488
Frequency
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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