A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737545



Internal ID9971884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125398934..126602079hg38UCSC Ensembl
Outerchr8:126411176..127614324hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381203146
hg191203149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866422, essv6684609, essv6823072, essv6705699, essv6976072, essv6958246, essv6970144, essv6737478, essv6861198, essv6893987, essv6919574, essv6681061, essv6811822, essv6808949, essv6731548, essv6727780, essv6694923, essv6900214, essv6672202, essv6964845, essv6912014, essv6923720, essv6890803, essv6765438, essv6958245, essv6923721, essv6830790, essv6709026, essv6904391, essv6701839, essv6814952, essv6755091, essv6964844, essv6966794, essv6876243, essv6787155, essv6757868, essv6887567, essv6760571, essv6879095, essv6799609, essv6791248, essv6884718, essv6778885, essv6766954, essv6720139, essv6734817, essv6912013, essv6948482, essv6791247, essv6904390, essv6782937, essv6939739, essv6740573, essv6683665, essv6801343, essv6760570, essv6884716, essv6881929, essv6683676, essv6720138, essv6684608, essv6811819, essv6935465, essv6737477, essv6705700, essv6827124, essv6827121, essv6775192, essv6766965, essv6771505, essv6734142, essv6691111, essv6919575, essv6723933, essv6931208, essv6712498, essv6830876, essv6915647, essv6900213, essv6707776, essv6850274, essv6830791, essv6834400, essv6841903, essv6856294, essv6778886, essv6740572, essv6734131, essv6894146, essv6803082, essv6801365, essv6819022, essv6805959, essv6927431, essv6672203, essv6944265, essv6691112, essv6677253, essv6948486, essv6934240, essv6923723, essv6935466, essv6861694, essv6667930, essv6775191, essv6677252, essv6861209, essv6723930, essv6934229, essv6870323, essv6694924, essv6850278, essv6890802, essv6686820, essv6667929, essv6763028, essv6765439, essv6976071, essv6705697, essv6845512, essv6687845, essv6897230, essv6861698, essv6884717, essv6801354, essv6787152, essv6763029, essv6873285, essv6908306, essv6819023, essv6939741, essv6803083, essv6743624, essv6701836, essv6787151, essv6778884, essv6976074, essv6791246, essv6876244, essv6827123, essv6887568, essv6683687, essv6808948, essv6952632, essv6931205, essv6935464, essv6805958, essv6795424, essv6814953, essv6919572, essv6830887, essv6687843, essv6958247, essv6712500, essv6691109, essv6856293, essv6838079, essv6782936, essv6870322, essv6850279, essv6799611, essv6850275, essv6716205, essv6893976, essv6775190, essv6734155, essv6791250, essv6746419, essv6881928, essv6768068, essv6870324, essv6752141, essv6948483, essv6887565, essv6861695, essv6944266, essv6723934, essv6927430, essv6931207, essv6904952, essv6915646, essv6900215, essv6766943, essv6944264, essv6734818, essv6701837, essv6694922, essv6778887, essv6923722, essv6834398, essv6879094, essv6866420, essv6861696, essv6791249, essv6850277, essv6749257, essv6681060, essv6814955, essv6701838, essv6845513, essv6698380, essv6850273, essv6827122
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, 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 GenesFAM84B, LINC00861, TRIB1
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)esv2737545
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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