A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673677



Internal ID9593096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102328500..102381705hg38UCSC Ensembl
chr7:101968917..102022152hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3853206
hg1953236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6047679, essv5659307, essv5620075, essv5427126, essv6305389, essv5732420, essv6161566, essv6348705, essv6285173, essv6165497, essv6213158, essv5682605, essv5479815, essv6067832, essv5874763, essv5951767, essv6311345, essv6402544, essv5949372, essv5673154, essv6125538, essv6407735, essv5635113, essv6285169, essv5431008, essv6098028, essv6315298, essv5805436, essv5765409, essv5399463, essv6580215, essv6425523, essv6228273, essv6021612, essv6145611, essv5738984, essv6283469, essv5789041, essv5893310, essv5583005, essv5638522, essv5983657, essv6204359, essv5659141, essv6448878, essv5693578, essv5746234, essv5911380, essv5796290, essv5453460, essv5720382, essv6581505, essv6432527, essv5791889, essv5621313, essv6399221, essv6589371, essv6474513, essv6125413, essv6124432, essv5668679, essv5953834, essv6309472, essv6049885, essv6398288, essv5711481, essv5584812, essv5513273, essv5526897, essv5686641, essv6282677, essv5930340, essv5972987, essv5651564, essv6440639, essv6141155, essv6351973, essv5438273, essv5997066, essv6532233, essv6468778, essv5415399, essv5900489, essv5572041, essv5754111, essv5398539, essv6038108, essv5971076, essv6065708, essv5617336, essv5499380, essv6366083, essv6172245, essv5739964, essv5447580, essv6269941, essv5604342, essv5678573, essv5420104, essv6416903, essv5587724, essv6111233, essv5984454, essv5717037, essv5658657, essv6585818, essv5471021, essv6137551, essv5547599, essv6402145, essv5632020, essv5776109, essv5995427, essv6543594, essv5804598, essv5681117, essv6511167, essv6387113, essv6180820, essv6025034, essv5552665, essv6535825, essv6163365, essv5653387, essv5520594, essv6288948, essv5740445, essv5537477, essv6300502, essv6272551, essv5782455, essv5889858, essv5808556, essv5505764, essv6021418, essv6192359, essv6365683, essv5407205, essv5419418, essv6539982, essv5702568, essv6221369, essv5897355, essv5430699, essv6121167, essv5885633, essv6131919, essv6556972, essv6464286, essv6211615, essv5701879, essv6006994, essv5911221, essv6164606, essv6322793, essv5898690, essv6353990, essv6164882, essv6386719, essv6041659, essv5808188, essv5690319, essv6095398, essv5889406, essv6084720, essv6285016, essv6136764, essv6551617, essv6167007, essv5691942, essv5874189, essv5782607, essv6266210, essv5691239, essv6220518, essv6389745, essv5470496, essv6438253, essv5936398, essv5796427, essv6001081, essv5866881, essv6527478, essv6041282, essv6459242, essv5994891, essv6350026, essv6263322, essv5968691, essv6463235, essv5831733, essv5748198, essv5584044, essv6119777, essv6201955, essv5852490, essv5723414, essv6477741, essv6550272, essv6359065, essv5938578, essv6168737, essv5798381, essv5729873, essv5401975, essv6329891, essv6115370, essv6113256, essv5406492, essv6563662, essv5814449, essv5585154, essv6541839, essv5465865, essv5416886, essv6226163, essv6185127, essv6102006, essv5967971, essv5632993, essv6273668, essv6343319, essv6098653, essv5769918, essv6326990, essv6094240, essv6066135
SamplesNA19463, NA19065, HG00180, NA18622, NA18487, HG01061, HG00581, NA19394, HG01060, HG00189, HG00114, NA12842, NA19703, HG00231, NA18621, HG00249, NA19664, NA11829, HG00671, HG00361, HG01359, HG00524, NA19399, HG01052, HG00187, NA19332, HG01079, NA11920, NA18599, HG01389, HG00306, NA18999, NA18917, HG00367, HG00318, NA18486, NA12751, HG01465, NA19355, NA19393, NA19057, NA19377, NA18530, NA12058, HG00179, NA18616, HG00449, HG01461, NA19443, NA12400, HG01051, NA12155, NA18602, HG01140, NA18988, NA19374, NA19068, HG01250, HG00641, HG01350, NA19379, HG00589, NA19448, HG00689, NA20586, HG00173, NA19723, NA18982, NA18567, HG00330, HG01492, HG00736, HG00610, NA19062, NA11992, NA07347, NA20768, NA19313, NA19054, NA19782, HG00185, NA20336, NA19904, NA19384, HG00537, HG00243, NA19130, HG00277, NA19720, HG01080, NA19383, HG00683, NA18874, NA06984, NA18977, HG00325, HG00262, NA19917, NA19719, NA18560, NA12044, HG00534, HG00705, NA18986, NA19087, HG00309, NA19901, NA19725, HG01048, HG01133, NA18908, HG00323, NA18867, NA20755, HG00264, HG00464, HG00108, HG01124, HG00260, NA18614, NA10847, HG01353, HG00543, HG00137, HG01136, HG00188, NA19657, HG01171, NA19070, NA19403, HG00328, NA19462, HG00653, HG00701, NA20760, NA20536, NA19391, NA19717, NA19236, HG00320, HG00584, HG00533, HG00583, HG00275, NA18534, NA20770, NA18548, HG00740, HG01390, HG01047, HG00324, NA19461, HG00404, HG00373, NA19453, NA06989, HG00117, HG01101, HG00321, NA18553, NA12827, NA19059, NA19338, NA19009, NA19452, NA19682, HG00463, NA19469, NA19395, NA12546, HG01107, NA19012, NA19685, NA19003, NA20773, NA19652, NA19390, NA18535, NA18559, NA19749, NA19473, HG00375, HG00357, NA12272, HG00734, NA19010, NA20527, NA19835, NA19679, NA19428, NA19311, NA19467, HG01137, HG00319, NA19083, HG00256, NA18615, HG01342, NA19376, NA19398, NA19078, HG00614, HG00111, HG00478, NA19248, HG01491, NA18631, NA19472, NA19779, HG01055, NA18636, HG00310, HG00131, NA19726, NA11843, NA20758, NA19213, HG00343, NA19900, NA18983, HG00377, HG00372, HG01377, HG01378, NA19004, HG01125, HG00171
Known GenesLOC100289561, LOC100630923, SPDYE6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673677
Frequency
Sample Size1151
Observed Gain0
Observed Loss227
Observed Complex0
Frequencyn/a


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