A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678074



Internal ID9597493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5833152..5833465hg38UCSC Ensembl
chr4:5834879..5835192hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6156832, essv5665796, essv5999276, essv5403591, essv6565602, essv5741392, essv6063601, essv6361740, essv6544269, essv6504366, essv6384102, essv6359842, essv5823929, essv6081920, essv5952817, essv5836694, essv6054958, essv5929015, essv6582285, essv6523459, essv5606175, essv5529105, essv5709383, essv6170103, essv5855074, essv6572572, essv6308413, essv6088645, essv5526950, essv6001468, essv6011590, essv5742336, essv6529124, essv5463122, essv6522826, essv6596652, essv5511824, essv5796743, essv6566538, essv6246605, essv5651047, essv5442663, essv5556672, essv6190698, essv5688048, essv5841090, essv5673716, essv5657462, essv5398442, essv6222011, essv5729258, essv5636310, essv6435510, essv6250661, essv5546875, essv6439539, essv5488540, essv5781510, essv6109539, essv6517404, essv5465514, essv5874678, essv6192540, essv5569159, essv6178629, essv6086749, essv5729196, essv5490685, essv6458678, essv6426157, essv6390807, essv5955152, essv5898565, essv6278562, essv6272174, essv5813388, essv6203260, essv5877096, essv6579266, essv5510235, essv6310161, essv6358939, essv6436747, essv5995839, essv6395851, essv6298706, essv5893048, essv5487332, essv6483638, essv5855186, essv5533985, essv5851866, essv6430220, essv6501505, essv6100319, essv5681168, essv5962217, essv5841996, essv5497975, essv5499393, essv6036620, essv6235961, essv6380716, essv6022148, essv5534202, essv5886503, essv6223351, essv5660051, essv5963221, essv6323052, essv5920840, essv5921091, essv5495041, essv5973316, essv5851949, essv6592311, essv5494280, essv5894532, essv5742698, essv5761399, essv6221934, essv6471158, essv6344943, essv6144485, essv6200046, essv6149855, essv5585893, essv5543891, essv6108635, essv6573836, essv5737048, essv5502693, essv6359923, essv6552688, essv6172956, essv6151106, essv5465494, essv5927844, essv5593351, essv6188315, essv6565446, essv5405447, essv5681001, essv6545046, essv6249670, essv5481088, essv5476436, essv6268837, essv5784165, essv5788388, essv6311687, essv5584236, essv5487224, essv6417030, essv5632505, essv5845529, essv6021211, essv5467592, essv6042727, essv6346115, essv6326944, essv6320777, essv5968117, essv6444093, essv6268053, essv5819563, essv6058423, essv6463868, essv5480635, essv5591813, essv6190198, essv5992158, essv6544958, essv6301887, essv6032984, essv6339512, essv6023270, essv5833804, essv6202718, essv6302150, essv5931148, essv6373463, essv5995598, essv5942597, essv5764157, essv5801404, essv5906797, essv6567969, essv6130469, essv5628356, essv6279820, essv6123565, essv6159307, essv5401263, essv6126941, essv6067366, essv6144602, essv6049101, essv6191721, essv5727172, essv5849841, essv5509668, essv6129324, essv5608489, essv6061244, essv5981433, essv6523624, essv6230595, essv5473246, essv6392020, essv6269778, essv6205095, essv6012869, essv5968991, essv5845357, essv6041444, essv6458905, essv5646825, essv6432832, essv5811800, essv6245435, essv6569135, essv6168590, essv5989960, essv5535124, essv6449658, essv5474948, essv5602994, essv6085210, essv6042193, essv6436346, essv6423890, essv5974947, essv5802289, essv6082429, essv6329045, essv6592812, essv6059974, essv5530672, essv5829856, essv5412183, essv5967095, essv6376495, essv6019909, essv5982301, essv5607127, essv6389452, essv5716421, essv5993980, essv6208043, essv6134133, essv6120750, essv6439357, essv6063542, essv6591925, essv6088649, essv6047652, essv5645126, essv6396344, essv5952183, essv5555880, essv5943235, essv6584212, essv5407370, essv6545917, essv6201083, essv6066712, essv5564384, essv5889157, essv6277460, essv5933716, essv5704019, essv5691742, essv6311379, essv5875876, essv6127077, essv5924826, essv6550685, essv5657390, essv5842423, essv6071724, essv5739434, essv5882612, essv5976424, essv5996580, essv5400224, essv5616093
SamplesHG00613, NA11881, NA19207, NA19312, NA12489, HG00537, NA18605, HG01440, HG00257, NA19904, NA18951, HG01353, HG00418, NA19819, NA12342, NA19114, HG01173, NA11920, HG01083, NA19209, HG00274, NA12347, NA18501, NA11918, NA19469, NA20346, NA18570, HG00707, NA19455, NA18545, NA18603, NA20294, NA11931, NA18516, NA19359, NA12813, NA19334, NA19788, NA18972, HG01488, NA18517, NA18947, HG00375, HG00542, HG01491, NA19920, NA20786, HG00139, NA18489, NA19144, NA19210, NA18507, HG00683, NA19834, NA12776, NA07051, NA20314, HG00651, HG00280, HG00557, HG00146, NA18965, NA18488, NA19355, HG00319, NA19084, NA18557, NA12044, HG01171, HG00479, NA18628, NA19438, HG00543, HG01107, NA19463, NA20761, NA19067, NA18912, NA12843, NA18934, HG00250, NA18508, NA18967, NA19239, NA12282, NA19390, HG00421, NA12004, HG00337, NA18635, NA19057, NA19917, NA12155, HG00096, NA19900, NA20504, NA19107, NA18617, HG01047, NA19396, NA20754, HG01124, HG00628, NA19397, HG00315, NA07048, NA12761, NA18638, NA19429, HG00338, NA11933, HG00150, HG00533, NA11831, NA18976, NA11894, NA12400, NA18637, NA18973, NA20520, NA18916, NA18593, HG00276, HG01187, NA19700, HG00237, HG00343, NA19082, HG00662, NA19190, NA19055, NA19676, HG00373, NA19360, HG00159, NA19395, NA19153, NA07346, HG00108, NA12716, NA18537, NA19129, NA19172, NA19771, NA12892, NA19372, NA18572, NA19374, NA19703, HG01066, NA19393, NA19373, NA19384, HG00325, NA19716, NA18486, NA18968, NA18986, NA19102, NA06986, NA18522, NA19005, HG00260, NA18502, NA19119, NA18977, NA19098, HG00239, NA19901, HG01069, HG00249, HG00478, NA18858, HG00116, HG00277, HG01080, NA20797, HG00513, HG00524, HG00512, HG00246, NA19131, NA19159, HG01060, NA19382, HG01383, NA18579, NA19318, NA20813, NA18974, NA19462, NA18940, NA19235, NA18619, NA18582, HG00427, NA20537, NA19138, NA19376, NA12272, HG00443, NA18567, NA19391, NA19201, HG01334, NA19009, NA20518, HG00138, NA12889, NA19116, NA18631, NA20287, NA18544, NA18971, NA18602, NA19755, HG00608, NA19099, NA19446, NA19452, NA18548, NA11830, NA12003, NA19225, NA11993, NA20812, NA12546, NA12842, NA19160, HG00142, NA18499, NA19732, NA18924, NA19371, NA20543, HG01108, NA18984, NA18611, HG00566, NA11829, NA19130, HG01177, NA19171, NA19240, NA19346, HG00320, HG00275, NA12717, NA18853, NA19204, HG01374, NA18981, HG01102, NA19473, NA20524, HG01377, NA06994, HG00336, NA20772, HG00345, NA19092, NA20538, NA19200, NA19750, NA19007, HG00136, NA18519, NA12775, NA18980, HG01354, HG00323, NA19137, NA12827, NA12043, NA19152, HG00734, NA18861, NA12750, NA11930, NA07037, HG00344, HG01052, HG01075, HG01055, NA18952, NA18975, NA07056
Known GenesCRMP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678074
Frequency
Sample Size1151
Observed Gain0
Observed Loss287
Observed Complex0
Frequencyn/a


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