A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664776



Internal ID9584195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191346896..191353878hg38UCSC Ensembl
chr3:191064685..191071667hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386983
hg196983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv903e199
Supporting Variantsessv6168568, essv5991097, essv6347887, essv5526038, essv6294661, essv6182308, essv5467896, essv6270646, essv5790390, essv5415248, essv5606036, essv6056636, essv6178255, essv6232927, essv6065155, essv6231116, essv6502456, essv6368376, essv6269867, essv6386045, essv5605316, essv5559132, essv6104902, essv5781967, essv6018376, essv6537826, essv6395313, essv5866446, essv6019037, essv5942369, essv6062216, essv5936869, essv6567746, essv6327839, essv6200705, essv6268444, essv6015600, essv5686851, essv6561490, essv5643474, essv5742859, essv5849993, essv5982896, essv6435031, essv5896589, essv5786330, essv5718428, essv5566930, essv5948923, essv6322933, essv5744682, essv5689754, essv5918142, essv5430017, essv6588804, essv6157849, essv5592288, essv5548771, essv6469443, essv5443392, essv6000802, essv6475749, essv5641612, essv6446362, essv6146397, essv5458835, essv5433006, essv6113722, essv5788347, essv6084165, essv6043224, essv6008070, essv5498267, essv6054271, essv5765095, essv5857072, essv5479943, essv5657754, essv5618019, essv5519605, essv6205566, essv5461416, essv6276204, essv5566700, essv5556528, essv5838242, essv6285954, essv6498276, essv5718125, essv5416182, essv5985549, essv6353439, essv6123335, essv5766257, essv5817026, essv6199900, essv5941546, essv5861228, essv5858446, essv6196254, essv6394477, essv5495925, essv6280301, essv5906638, essv6565641, essv6576611, essv6084002, essv6138960, essv6349866, essv5474644, essv5418217, essv6512229, essv6060384, essv5995395, essv6117975, essv6434086, essv6117564, essv6052050, essv5608618, essv5915692, essv5467706, essv6128531, essv5800447, essv6232345, essv6136038, essv6376217, essv5435819, essv6314256, essv6381358, essv5980074, essv6446616, essv5903673, essv6325988, essv5694353, essv5853216, essv6072409, essv6107903, essv5733882, essv6392502, essv6133627, essv5679378, essv5606751, essv6092756, essv6092478, essv5998986, essv5466673, essv5560931, essv6479501, essv5423767, essv6069014, essv6144796, essv6308251, essv6064676, essv5690443, essv6584740, essv5469278, essv6290966, essv5431238, essv6218436, essv6208438, essv6530821, essv6420091, essv5606800, essv5480949, essv6214348, essv5676618, essv5606341, essv5990148, essv6488972, essv6426410, essv6022391, essv5939036, essv6308497, essv5470567, essv6396480, essv5849115, essv6047839, essv6244105, essv6481569, essv5994559, essv5460777, essv5975947, essv6043833, essv6504264, essv6281210, essv6232791, essv6010200, essv6490065, essv6251947, essv6044409, essv6392635, essv6151512, essv5636360, essv5956117, essv6454206, essv6151473, essv5938272, essv5421609, essv5901837, essv6217511, essv5720647, essv5926462, essv5644524, essv5463266, essv5554714, essv5665656, essv6099917, essv5955056, essv5795405, essv6067461, essv5993803, essv6431792, essv6557594, essv5884412, essv5818280, essv6027531, essv5568496, essv6342104, essv6085959, essv5425889, essv5681447, essv5517308, essv6456203, essv6173887, essv6052274, essv5398757, essv6386410, essv6375778, essv6354529, essv5639860, essv5842268, essv6122174, essv6309758, essv5510996, essv5892566, essv6402235, essv5919555, essv6237324, essv5843604, essv5512582, essv6229939, essv6095279, essv5792505, essv6023713, essv5681610, essv5650950, essv5476866, essv6471938, essv5767280, essv5984841
SamplesNA19394, HG00189, NA12717, NA20529, HG00143, HG00142, NA20766, HG00242, NA10851, NA19399, NA12273, NA20783, NA12414, NA11931, HG00257, HG00315, NA20512, HG00244, HG00181, NA12751, HG00153, NA19684, HG00737, HG01518, NA19443, NA19920, NA20771, NA12750, HG00337, NA12813, NA20814, NA19446, NA07346, HG00138, HG00272, NA20798, HG01351, HG01177, NA20795, NA18916, NA07347, HG01365, HG00243, HG00158, HG00281, HG00139, NA20759, NA12275, HG01069, NA19720, HG01080, HG00148, NA12156, HG01519, HG00156, NA20812, NA18868, HG00232, NA12044, NA11994, NA19172, NA19722, HG00118, HG01198, NA19239, HG01133, HG00326, NA18867, HG01124, NA12777, HG00154, NA20535, NA12489, HG00266, HG01171, HG00282, HG00245, HG00368, HG00344, HG00275, HG01047, HG00324, HG00284, NA11919, NA20581, HG00331, HG01101, HG01497, HG01334, NA12144, NA12778, HG00246, NA12546, HG01107, NA12043, HG01148, NA19652, HG00155, HG00336, NA19434, NA12272, HG01551, HG00734, NA19331, NA20520, NA20778, NA19783, HG01489, HG01342, HG00339, NA18501, NA06994, NA19779, HG00267, NA20510, HG00310, NA11843, NA20826, HG00377, HG00274, NA20503, NA11892, HG01111, HG00171, NA12154, NA20754, HG01437, HG00553, NA19676, HG01516, HG00096, HG01356, NA11829, HG00361, NA19914, HG01052, HG00187, NA19332, HG01079, HG00100, NA20813, NA20532, HG00640, HG00318, HG01465, NA19819, NA12004, HG00177, HG00150, NA20507, NA19190, NA12400, NA07357, HG01140, NA12341, HG00327, HG01250, NA19396, NA20796, HG01070, HG00251, HG00330, NA20540, NA12287, HG00247, HG00369, NA20513, HG01134, NA12282, HG01455, NA19651, HG00106, HG01072, NA19731, NA19471, HG01440, HG00182, NA19189, HG00637, HG00338, HG00159, NA12828, HG00739, NA12748, NA11993, HG00108, NA11831, HG00133, HG01136, HG00188, NA19657, HG01360, HG00183, HG00176, NA20787, NA20524, HG00328, NA12342, NA12003, NA20536, NA19327, HG00320, NA20506, NA20770, HG00273, NA19449, HG00373, NA11894, NA18856, NA12249, HG01383, HG00157, NA12827, NA20282, HG00276, NA20828, NA20542, HG01204, HG00124, NA12716, HG00119, NA11881, HG01190, HG00285, HG00366, HG00357, HG01253, NA20804, HG00278, NA07051, HG01494, NA19439, HG00319, HG00256, HG00269, HG00125, NA19398, HG00111, HG01491, HG00312, NA19438, HG01254, NA20807, HG01377, NA18522, HG01112, HG01097, HG01061, NA12776, NA20509
Known GenesCCDC50
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664776
Frequency
Sample Size1151
Observed Gain0
Observed Loss250
Observed Complex0
Frequencyn/a


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