A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585459



Internal ID6972982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21981157..22005948hg38UCSC Ensembl
Innerchr1:21981657..22005448hg38UCSC Ensembl
Outerchr1:21980157..22006948hg38UCSC Ensembl
chr1:22307650..22332441hg19UCSC Ensembl
Innerchr1:22308150..22331941hg19UCSC Ensembl
Outerchr1:22306650..22333441hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3824792
hg1924792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e214
Supporting Variantsessv9889004, essv9889000, essv9888951, essv9888947, essv9889015, essv9888949, essv9888957, essv9888921, essv9889037, essv9888930, essv9888979, essv9888983, essv9888948, essv9889014, essv9889043, essv9889055, essv9888920, essv9888922, essv9888927, essv9889031, essv9889016, essv9889013, essv9889050, essv9888932, essv9889056, essv9889018, essv9889001, essv9889025, essv9888984, essv9888940, essv9889044, essv9888952, essv9888985, essv9888934, essv9888945, essv9889045, essv9888991, essv9888992, essv9888990, essv9888974, essv9889035, essv9888982, essv9889036, essv9889002, essv9888986, essv9888999, essv9888956, essv9888950, essv9888958, essv9888993, essv9889038, essv9888928, essv9888919, essv9888981, essv9889047, essv9888941, essv9889052, essv9889032, essv9889057, essv9889010, essv9888995, essv9888996, essv9888976, essv9888933, essv9889024, essv9889020, essv9888939, essv9888987, essv9889051, essv9888962, essv9888946, essv9888968, essv9888966, essv9888918, essv9888944, essv9889033, essv9888936, essv9889022, essv9888929, essv9888917, essv9889007, essv9888937, essv9889060, essv9889059, essv9888960, essv9888977, essv9889061, essv9889008, essv9889029, essv9889019, essv9888963, essv9889039, essv9888954, essv9889021, essv9889023, essv9888924, essv9889005, essv9888935, essv9889003, essv9888959, essv9889040, essv9888926, essv9889028, essv9888967, essv9888942, essv9888972, essv9889030, essv9888989, essv9889054, essv9888965, essv9888980, essv9888971, essv9888998, essv9888964, essv9888961, essv9889053, essv9888943, essv9888970, essv9888938, essv9888925, essv9888975, essv9888931, essv9888953, essv9888955, essv9889017, essv9888997, essv9888923, essv9889062, essv9889049, essv9888988, essv9889012, essv9888969, essv9889026, essv9888916, essv9889027, essv9888973, essv9889058, essv9889009, essv9889048, essv9889011, essv9889006, essv9888994, essv9889042, essv9889046, essv9889041, essv9888978, essv9889034
SamplesNA12383, HG03096, HG00235, HG02944, NA20891, HG00102, NA18647, NA18861, HG03163, HG03821, HG01815, NA11933, NA18979, NA18545, HG03455, HG00364, HG01971, NA18616, HG01947, HG03139, HG02356, HG00097, NA20806, HG01140, HG03199, NA19446, HG03074, HG03464, HG01506, NA19319, NA19315, HG02810, HG02407, HG01779, HG03499, HG01853, NA20774, NA18923, NA20900, HG03370, HG02854, HG03105, NA19023, NA19457, NA18498, NA18949, NA20910, NA19922, HG02143, HG03460, HG02703, HG02224, NA18977, NA19372, NA18617, NA19317, HG02471, HG01176, NA21107, NA20412, HG00406, HG02946, NA19445, HG00253, HG02819, NA20818, NA19007, NA18645, HG00154, HG02977, HG00443, NA19070, HG02334, HG02090, NA19462, NA19086, HG00701, NA19184, HG01515, NA18991, HG02390, HG01989, NA20126, NA18910, HG02508, NA18948, HG01675, HG03021, NA18907, HG01311, HG03382, HG00479, HG04173, HG01241, NA19750, HG03571, NA20282, NA19257, NA19452, HG02031, NA18570, HG01107, HG01075, NA19012, HG02484, HG02255, NA19003, NA19206, NA19440, NA19834, HG02799, HG00625, HG02010, HG03708, HG01678, NA19473, HG02721, NA19331, HG01958, NA12046, NA19334, HG01866, NA19467, NA19085, NA18615, NA06986, HG03103, NA19248, HG03789, HG03097, HG00421, NA20334, NA18994, HG00123, HG02676, HG03410, NA18876, HG01781, HG03470, HG03882, NA18522, HG03198, HG00180, HG00362, NA19153, NA21120, HG01608
Known GenesCELA3A, CELA3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585459
Frequency
Sample Size2504
Observed Gain0
Observed Loss147
Observed Complex0
Frequencyn/a


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