A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588646



Internal ID6976062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206135385..206141401hg38UCSC Ensembl
chr1:206199929..206205945hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10273929, essv10273920, essv10273931, essv10273868, essv10273940, essv10273910, essv10273889, essv10273878, essv10273926, essv10273925, essv10273887, essv10273953, essv10273913, essv10273966, essv10273896, essv10273855, essv10273960, essv10273946, essv10273916, essv10273973, essv10273907, essv10273959, essv10273975, essv10273957, essv10273888, essv10273860, essv10273965, essv10273971, essv10273863, essv10273949, essv10273869, essv10273904, essv10273909, essv10273938, essv10273917, essv10273964, essv10273947, essv10273912, essv10273943, essv10273900, essv10273859, essv10273882, essv10273897, essv10273858, essv10273881, essv10273867, essv10273923, essv10273956, essv10273893, essv10273939, essv10273972, essv10273895, essv10273974, essv10273914, essv10273861, essv10273884, essv10273952, essv10273958, essv10273871, essv10273935, essv10273936, essv10273924, essv10273948, essv10273866, essv10273902, essv10273879, essv10273951, essv10273899, essv10273950, essv10273955, essv10273928, essv10273883, essv10273865, essv10273934, essv10273922, essv10273944, essv10273937, essv10273876, essv10273898, essv10273890, essv10273933, essv10273941, essv10273945, essv10273864, essv10273892, essv10273905, essv10273968, essv10273919, essv10273870, essv10273963, essv10273962, essv10273885, essv10273872, essv10273961, essv10273891, essv10273877, essv10273886, essv10273967, essv10273930, essv10273927, essv10273875, essv10273954, essv10273915, essv10273911, essv10273906, essv10273908, essv10273880, essv10273874, essv10273862, essv10273903, essv10273873, essv10273854, essv10273970, essv10273857, essv10273942, essv10273921, essv10273894, essv10273932, essv10273969, essv10273856, essv10273901, essv10273918
SamplesNA18502, HG02339, HG03559, NA19222, HG02496, HG03378, HG03548, NA19204, NA18508, HG03163, HG03247, NA19704, HG02798, HG03558, HG02012, NA20321, NA19092, NA20346, HG03193, HG03139, HG03478, HG03572, HG03133, NA18489, HG03499, NA20320, NA19119, NA18923, NA19198, HG03485, NA19131, HG02645, NA19138, HG02816, HG02111, HG02143, NA19041, HG02315, HG02461, HG03045, NA19235, HG03195, NA19471, NA19159, HG03352, NA19026, HG02571, HG02502, HG03225, NA18864, HG03267, HG02623, HG03394, NA18867, HG03369, HG03169, HG02879, HG02479, HG03343, HG01784, HG02570, HG03054, HG03132, NA19707, HG02334, NA19152, NA19984, NA19717, NA19455, NA19236, HG02322, NA18516, HG02450, HG02887, HG01989, HG03575, NA20126, HG03124, HG03123, HG03472, HG03301, HG03085, HG02429, HG03024, HG02585, NA19225, HG02332, HG02722, NA19035, HG03567, HG02255, HG02557, HG03539, HG02501, HG02010, NA19380, HG03469, HG02941, HG02274, HG02580, NA19360, HG03557, HG02814, HG02558, NA19143, HG03432, NA19248, HG03112, HG02938, HG01055, HG02768, NA19102, HG02052, NA19030, HG02947, HG02855, NA19146, HG02805, HG03198, HG02629, HG02643, HG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588646
Frequency
Sample Size2504
Observed Gain0
Observed Loss122
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer