A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668897



Internal ID9588316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:66552457..66554016hg38UCSC Ensembl
chr18:64219694..64221253hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5707367, essv6306110, essv5584567, essv6077383, essv5486138, essv5784545, essv6127550, essv6407696, essv6511242, essv6018350, essv5728524, essv5972009, essv5528114, essv6275877, essv5985880, essv6293846, essv6196922, essv5651676, essv6564878, essv5767374, essv5700078, essv5516140, essv6482804, essv5919418, essv5410103, essv6318186, essv5488486, essv6076544, essv6150888, essv5456648, essv5746260, essv5925449, essv5960602, essv5849286, essv6312172, essv6360069, essv5649756, essv6042976, essv6130179, essv5778960, essv6537448, essv5491372, essv6074818, essv6586509, essv5411851, essv5680595, essv6276274, essv5806480, essv5818089, essv6315918, essv6059541, essv5886528, essv5433453, essv5779610, essv5911359, essv5552822, essv6328335, essv6369583, essv5740402, essv5753974, essv5998696, essv5923220, essv5827898, essv6160865, essv6424076, essv6486926, essv5964884, essv5682053, essv5830311, essv5895192, essv6300838, essv5701431, essv6032913, essv5436557, essv6061778, essv5735442, essv5549694, essv5427893, essv6405647, essv6227595, essv5750630, essv6280108, essv6527735, essv5405187, essv6457157, essv6430749, essv6231976, essv6491545, essv5556738, essv5602585, essv5777869, essv6509389, essv6018672, essv6054450, essv5510788, essv6444905, essv6024447, essv5471045, essv6432178, essv5406226, essv6585197, essv5435676, essv5827978, essv6086001, essv5876431, essv5911236, essv5725570, essv6524567, essv5488024, essv5811752, essv5754507, essv5579246, essv5826469, essv5459486, essv6524451, essv6089411, essv6296182, essv5879080, essv6046368, essv6189983, essv6224944, essv5614861, essv6084160, essv5967731, essv6200816, essv6503220, essv5979693, essv5992359, essv5803401, essv5914763, essv5907342, essv6025241, essv5456184, essv5457329, essv6320153, essv6525564, essv5427945, essv5974460, essv5571697, essv5798920, essv5531310, essv5625180, essv5910322, essv6242555, essv5868832, essv6411690, essv5492833, essv5841396, essv6456591, essv6275842, essv5442865, essv5882854, essv6077586, essv6490603, essv5544767, essv5508824, essv6342652, essv5877442, essv6540892, essv5623019, essv6133372, essv6020973, essv5436087, essv6271759, essv5856967, essv5815780, essv6310814, essv5912886, essv6587088, essv5692330, essv6193724, essv6298886, essv5976965, essv5892097, essv6142651, essv5867653, essv5563079, essv5853874, essv5537589, essv6568086, essv5787707, essv5604853, essv6041016, essv5923835, essv5479843, essv6106482, essv5457802, essv6296494, essv6085169, essv5993757, essv6544063, essv5447626, essv6150212, essv6118224, essv5802617, essv5775492, essv5706210, essv6061423, essv5403140, essv6315893, essv6367485, essv5463975, essv6296476, essv6201428, essv6499656, essv6290481, essv6374829, essv6564187, essv5792600, essv5843130, essv6269961, essv6517048, essv6157505, essv5836523, essv5518145, essv6370526, essv5865538, essv5491102, essv5825461, essv5886760, essv6427097, essv6132709, essv5595061, essv5983671, essv6398441, essv5643054, essv6451303, essv6572796, essv6181058, essv5881237, essv5434495, essv5638380, essv6330606, essv5935722, essv5787212, essv6084131, essv6276629, essv5509916, essv6326600, essv6301064, essv5474968, essv5757032, essv6509149, essv6203023, essv5423650, essv6030693, essv6569043, essv5657501, essv5522410, essv5547368, essv5759051, essv6260921, essv5440585, essv6000971, essv6199140, essv6058742, essv5856323, essv5988121, essv6049972, essv5768294, essv5882576, essv6527618, essv5805902, essv5590104, essv5811267, essv5639404, essv6179639, essv5963368, essv6288868, essv6276221, essv6029169, essv6542489, essv5781129, essv6097905, essv6138641, essv5888054, essv5815550, essv5753735, essv5914465, essv5755799, essv5883186, essv6326749, essv6007382, essv6243493, essv5499882, essv5725542, essv5795629, essv6263038, essv5459989, essv5950871, essv5594586, essv6027913, essv6257027, essv6412272, essv6145615, essv5462062, essv6586964, essv6342020, essv6515330, essv6019890, essv6143347, essv5820423, essv5403141, essv5530476, essv6332311, essv5484409, essv6301755, essv6565357, essv5581366, essv5667324, essv6218207, essv6410885, essv6075783, essv5658546, essv5558772, essv5618325, essv5521440, essv5546791, essv6546361
SamplesNA19207, NA18870, NA19248, NA12489, NA07347, NA19712, NA18520, NA20771, HG00182, NA19904, NA18871, NA19819, NA18523, NA19437, NA20752, NA19114, HG01173, NA19209, HG00274, HG00464, NA18501, NA19093, NA20535, NA20346, NA19435, HG01389, NA20296, HG01197, NA19359, NA19334, HG00189, NA19331, NA19453, HG01082, NA12828, NA18517, NA18947, NA19449, NA19461, HG01182, NA19144, NA19210, NA19379, HG01167, NA19834, NA20588, HG01188, HG00334, HG01204, NA12776, HG01461, NA19651, NA20314, HG01134, NA19257, NA19682, NA19108, HG00177, NA19701, NA19236, NA19355, NA19474, HG00319, HG00737, HG00253, NA20322, NA18505, NA19472, NA12287, NA20803, HG00156, NA18873, NA19147, HG01171, NA19776, NA18868, HG00247, HG00554, HG01133, HG00342, HG00115, HG01254, HG01107, HG01550, NA19463, NA19914, NA19428, NA20505, NA19383, NA19982, NA20533, HG01384, NA18934, HG00179, HG01140, NA18508, NA19239, NA20356, HG01375, HG00337, HG01378, NA19917, NA18960, HG00259, NA19443, NA19471, NA19900, HG01048, NA19107, NA19444, HG01061, NA20783, HG00372, HG01183, HG01495, NA20801, HG01047, NA19396, NA20754, HG01124, NA18856, NA12273, NA19397, NA20127, NA07048, NA19398, NA19429, NA19440, NA20765, HG01360, NA19985, NA19256, HG01113, NA19835, NA20282, NA20336, HG01253, NA11995, NA18916, HG00254, HG01187, NA19457, NA19700, HG00343, NA19316, NA19684, NA19324, HG00114, NA19190, HG01497, NA19213, NA19247, HG00267, NA19313, NA19377, NA19380, NA19786, NA19153, HG00124, NA07346, HG00108, NA12716, HG01465, NA19129, NA19172, NA19189, NA19372, NA20291, NA19374, NA19703, HG00640, HG01066, NA19375, NA19393, NA20126, NA12778, NA19373, NA18498, NA19716, NA18923, NA18486, NA19102, NA18522, NA20753, NA20334, NA20344, HG00260, NA18502, NA19119, NA19713, NA19098, NA19901, HG01356, NA18504, NA18487, NA18858, HG00277, NA19347, NA20828, HG01080, HG01351, NA19909, HG00329, HG01070, NA19707, HG00246, NA19131, NA19159, NA19328, HG01060, NA18910, HG01383, HG00377, NA19318, NA19711, NA19462, NA19235, NA10851, NA20525, HG01137, NA19138, NA19376, NA18907, NA19201, HG01334, NA20276, NA18867, NA19394, HG00138, NA19116, NA19431, HG00118, NA19818, NA19446, NA20507, NA20317, NA19770, NA19327, NA18917, NA12399, NA19399, NA19717, NA19160, HG01366, NA18499, NA18924, NA19371, HG00708, NA19198, NA19916, HG01108, NA19470, NA19315, HG01125, NA19130, HG01177, NA19171, NA19346, HG00119, HG01498, NA18853, NA19204, HG01374, HG01522, HG01489, NA18908, NA19473, NA20524, HG01377, NA19448, NA20502, HG00671, NA19468, HG00704, NA19200, NA19385, HG00278, NA19456, NA18519, NA19466, NA19439, NA19137, NA19152, NA19445, NA19625, HG00152, HG01359, NA18861, NA19436, HG00318, NA12750, NA12748, NA11930, NA19321, NA18933, NA19404, HG01055, NA07056, NA18874, HG01342, NA20516, HG00731, HG00245, NA19783, NA19060, NA18511, HG01098, NA06989, NA20299, NA12340, NA20294, NA19430, NA19317, HG01492, NA19451, NA20816, NA20342, HG01491, HG00553
Known GenesCDH19
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668897
Frequency
Sample Size1151
Observed Gain0
Observed Loss319
Observed Complex0
Frequencyn/a


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