A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670294



Internal ID9936399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833003..89252036hg38UCSC Ensembl
Outerchr2:88832532..89252606hg38UCSC Ensembl
Innerchr2:89132516..89551522hg19UCSC Ensembl
Outerchr2:89132045..89552092hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38420075
hg19420048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714e199
Supporting Variantsessv5498654, essv6353213, essv5399396, essv6018151, essv6220096, essv6469809, essv5777503, essv6589403, essv6496237, essv6561003, essv6245663, essv6368550, essv5597391, essv5506267, essv5865303, essv6138671, essv6094686, essv6460732, essv6064593, essv5720228, essv5482144, essv6309263, essv6326465, essv5594014, essv6115536, essv5770528, essv6209490, essv6089697, essv6078482, essv5994442, essv5668088, essv5681887, essv6397643, essv6323205, essv6302612, essv6482020, essv6018728, essv5872639, essv6231300, essv6350326, essv5598933, essv5827449, essv6018906, essv5496490, essv5773555, essv5832401, essv5918161, essv5460540, essv5643179, essv5645565, essv6030095, essv6491949, essv5518872, essv5809580, essv5956695, essv5457993, essv5637446, essv5954520, essv5912849, essv6087711, essv6593968, essv5606266, essv6051965, essv6017078, essv6028520, essv5876887, essv5937845, essv5553071, essv5836394, essv6413617, essv5562150, essv5901211, essv5573158, essv5507744, essv5805342, essv6378987, essv5433365, essv6455261, essv5587228, essv6036665, essv5595078, essv5716360, essv6357413, essv6564921, essv6218862, essv5859725, essv6524201, essv5761968, essv5732856, essv5863893, essv5962795, essv6298373, essv5560470, essv6518913, essv6416131, essv6595257, essv6425755, essv6165937, essv5490977, essv5838952, essv5462901, essv6483192, essv6284693, essv6558815, essv5397113, essv5439604, essv6350251, essv5965300, essv5993548, essv6271544, essv5678200, essv6018216, essv5746871, essv5607577, essv5706659, essv6277867, essv5936905, essv6384644, essv5681007, essv6506807, essv6344134, essv6329263, essv5746777, essv5898055, essv6526441, essv6092548, essv6572369, essv5961943, essv5922666, essv5624542, essv5664525, essv5818290, essv6401813, essv5577606, essv5691189, essv6276593, essv6538438, essv6464698, essv5477888, essv6026821, essv5658129, essv5743046, essv6223150, essv6191465, essv6301219, essv5777423, essv5465021, essv5995942, essv6278620, essv5566102, essv6408743, essv5762343, essv5636172, essv5882931, essv5991441, essv6402136, essv6185997, essv6536826, essv6502616, essv6528755, essv6429058, essv6254313, essv5830840, essv6181228, essv6118667, essv5452278, essv6380055, essv6480610, essv5585358, essv6587938, essv5952928, essv6119130, essv5548132, essv5957435, essv6433396, essv5675827, essv5938540, essv6300098, essv6335126, essv6515903, essv5623506, essv5441966, essv5738201, essv6526712, essv5756922, essv6383253, essv6042542, essv5655630, essv5843398, essv5815979, essv6258513, essv6187392
SamplesNA18502, NA19058, NA19055, NA19397, NA18924, NA18947, NA19066, NA19204, NA18861, NA18508, NA19399, NA19332, NA18980, NA18507, NA18999, NA18917, NA19350, NA19359, NA18486, NA19355, NA19393, NA19377, NA18959, NA19443, NA19190, NA18870, NA18510, NA19067, NA18988, NA19446, NA19374, NA19068, NA19396, NA19381, NA19171, NA19076, NA19379, NA19005, NA18944, NA18940, NA18519, NA19319, NA19382, NA18489, NA19448, NA19119, NA18982, NA18923, NA18960, NA18942, NA19062, NA18916, NA19313, NA19088, NA19054, NA18498, NA19384, NA18964, NA19079, NA18949, NA19404, NA19383, NA18874, NA18868, NA19137, NA19372, NA19235, NA19207, NA19385, NA19172, NA19317, NA18986, NA19159, NA19002, NA19189, NA18990, NA18520, NA18985, NA19209, NA19456, NA19445, NA18975, NA18973, NA18867, NA19451, NA19007, NA18951, NA19247, NA19437, NA19082, NA19070, NA19056, NA18934, NA19077, NA19347, NA19152, NA18956, NA19391, NA19327, NA19236, NA18516, NA19081, NA18871, NA18976, NA18948, NA18981, NA18907, NA19461, NA19114, NA19000, NA19449, NA19084, NA18856, NA18912, NA18853, NA19099, NA19059, NA19257, NA19009, NA19452, NA18523, NA19469, NA19318, NA19395, NA18858, NA18945, NA19436, NA18953, NA19401, NA19003, NA19440, NA18909, NA19321, NA19108, NA18961, NA18952, NA19256, NA19072, NA18950, NA19435, NA18941, NA19444, NA19331, NA19380, NA19144, NA19010, NA19334, NA19439, NA19470, NA19428, NA19311, NA19467, NA18943, NA19085, NA19376, NA19398, NA19328, NA19078, NA18501, NA18971, NA19472, NA19223, NA19060, NA18987, NA19468, NA19474, NA19093, NA19102, NA18873, NA19116, NA19213, NA18972, NA18983, NA18984, NA19430, NA18989, NA18505, NA19129, NA19004, NA19316, NA19312, NA19463, NA18511, NA19063, NA18522, NA19065, NA19346, NA19074, NA18487, NA19153, NA19431, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670294
Frequency
Sample Size1151
Observed Gain0
Observed Loss192
Observed Complex0
Frequencyn/a


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