A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674520



Internal ID9940625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146716295..146716622hg38UCSC Ensembl
chr6:147037431..147037758hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5518735, essv6459005, essv5491971, essv5704567, essv5498733, essv6346660, essv6484455, essv6090199, essv5722252, essv6237648, essv5785182, essv6227948, essv6591257, essv5713667, essv5691054, essv5437252, essv5969591, essv5588572, essv5640214, essv6503319, essv6496152, essv5541443, essv6514997, essv5458514, essv5558323, essv5956584, essv6415920, essv6591348, essv5468656, essv5547945, essv6401734, essv6225862, essv5973254, essv6307008, essv6392447, essv5852123, essv5727560, essv5685690, essv6074676, essv5733129, essv5892342, essv5854951, essv6305054, essv6557286, essv5699803, essv6343801, essv5503474, essv6509996, essv5397130, essv6439083, essv5671287, essv6182389, essv5788930, essv5981377, essv5424218, essv5767232, essv5853170, essv6252973, essv5862996, essv5416408, essv6591283, essv5997281, essv6485872, essv5399556, essv6421407, essv6022708, essv6075281, essv5550719, essv5970488, essv6171735, essv5615556, essv5421412, essv6302896, essv6344909, essv6500241, essv5847359, essv6377070, essv6416302, essv5537125, essv5968442, essv6424124, essv5509264, essv5576302, essv6425422, essv5759795, essv6135670, essv5909377, essv5402735, essv5598203, essv5517478, essv5777696, essv5646964, essv6280444, essv6228855, essv6285983, essv5738848, essv6069464, essv6577789, essv6586138, essv6425746, essv6479266, essv6282515, essv5514460, essv6268168, essv6187214, essv6500780, essv5908544, essv5750676, essv6222857, essv5416613, essv5780222, essv6233898, essv5842321, essv5607203, essv5735091, essv5634856, essv6128509, essv6128835, essv5773705, essv6266188, essv6323456, essv5796597, essv6030975, essv6240102, essv5493365, essv5398875, essv6414455, essv5430833, essv6413654, essv5510084, essv5920993, essv6174337, essv6115508, essv6179715, essv6542829, essv6228817, essv6396826, essv5474227, essv5712412, essv5450249, essv6072352, essv6576959, essv6194719, essv6122051, essv5846618, essv6470038, essv5948016, essv5720114, essv6317282, essv5960004, essv6485728, essv5413979, essv5409424, essv5770406, essv6510944
SamplesNA18502, NA19701, NA11830, NA19700, NA18924, HG00608, NA18947, NA11829, NA19204, NA18861, NA18508, NA19399, NA19914, NA19332, HG01079, NA18507, NA11931, NA12045, NA19359, NA18486, NA19355, NA18545, NA19393, NA19057, NA18504, NA20332, NA19377, NA19190, NA19098, NA19920, NA18510, NA12399, NA18627, NA19107, NA12813, NA18967, NA19171, NA19005, NA18944, NA18519, NA19319, NA19201, NA18489, NA19448, NA19678, NA19119, NA18923, NA19198, NA19131, NA18942, NA18916, NA11918, NA19138, NA18498, NA19782, NA19681, NA20336, NA19904, NA18964, NA19130, NA19651, NA18874, NA19917, NA19137, NA19371, NA19235, NA19207, NA19172, NA19159, NA19189, NA19239, NA20342, NA19209, NA18975, NA18908, NA18867, NA19451, NA19200, NA11993, HG01124, NA19210, NA12489, NA19437, NA19403, NA19152, NA18933, NA19391, NA19236, NA18516, NA18910, HG01149, NA18976, NA20344, NA18981, NA18907, NA19461, NA19114, NA19449, NA18499, NA18856, NA19453, NA18912, NA18853, NA19099, NA19257, NA19452, NA19225, NA19469, NA19318, NA19160, NA18858, NA18974, NA18546, HG01148, NA19375, NA18542, NA19390, NA18909, NA19834, NA19108, NA19256, NA19147, NA18517, NA19712, NA19331, NA19240, NA19144, NA19324, NA19360, NA19398, NA19328, NA18501, NA06994, NA20348, NA19248, NA18971, NA19438, NA19472, NA19223, NA12749, NA19102, NA19116, NA19213, NA18972, NA19900, NA18505, NA19129, HG01082, NA20322, NA18968, NA19463, NA18511, NA18522, NA19346, NA19153
Known GenesADGB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674520
Frequency
Sample Size1151
Observed Gain0
Observed Loss155
Observed Complex0
Frequencyn/a


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