A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672076



Internal ID9938181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53129453..53129931hg38UCSC Ensembl
chr1:53595125..53595603hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5822497, essv6296338, essv6281084, essv6562046, essv6549545, essv6522351, essv6533293, essv5722106, essv5842586, essv6416437, essv6274642, essv6086455, essv6252819, essv5478984, essv5523644, essv5888425, essv6516668, essv6399884, essv5774753, essv5937421, essv6540376, essv6443126, essv5815044, essv6567338, essv6235680, essv5874516, essv5903814, essv5846144, essv6435736, essv5929612, essv6319277, essv5735420, essv5815902, essv6121691, essv5581462, essv6545220, essv6473411, essv5698425, essv6403192, essv5439404, essv6414893, essv5633282, essv5814852, essv6012804, essv6590730, essv6110910, essv5502056, essv6419159, essv5987079, essv5673809, essv5680599, essv5669591, essv6559429, essv5835746, essv5536857, essv5661794, essv5906344, essv5428562, essv6346041, essv6197947, essv6210446, essv6531145, essv5455296, essv6220433, essv6365877, essv6519687, essv6110088, essv5771615, essv6492445, essv6059907, essv5483583, essv5902157, essv5490465, essv6226139, essv6006667, essv6038993, essv5644071, essv6302207, essv6249380, essv5441059, essv5569011, essv5585036, essv5708142, essv6048579, essv6030226, essv5594631, essv6377052, essv5694975, essv5602748, essv5704243, essv6008165, essv5804652, essv5513397, essv6256094, essv5754261, essv5447293, essv5678371, essv6341338, essv6399460, essv5923686, essv6248960, essv5542162, essv5851959, essv6030523, essv5833464, essv5524533, essv5866890, essv6467500, essv6437381, essv5625195, essv5614609, essv6430659, essv5794181, essv5782793, essv6388997, essv5597147, essv6225875, essv6432185, essv6232606, essv5942648, essv6391391, essv6371867, essv5804993, essv6226379, essv6021349, essv5654197, essv6182946, essv5442076, essv5738951, essv5720043, essv6118389, essv6591823, essv5530050, essv5709763, essv6127009, essv5928796, essv5473576, essv6213882, essv5550247, essv6373503, essv5543956, essv5821725, essv5556631, essv6551407, essv6549595, essv6019057, essv5958947, essv5581239, essv6383949, essv6198954, essv6050470, essv6243088, essv6402325, essv6591838, essv6590448, essv6324494, essv5819921, essv6382393, essv5543625, essv6412786, essv5897330, essv5558987, essv6045172, essv5484678, essv5588603, essv5431723, essv6055208, essv5478508, essv6412240, essv6571121, essv5799348, essv5531206, essv6510455, essv5614621, essv6055439, essv6073375, essv6327021, essv6258307, essv6302441, essv6556446, essv6106753, essv5633003, essv6253154, essv5945331, essv5444524, essv6528665, essv6418190, essv5941399, essv5511157, essv5972944, essv6076480, essv6348403, essv5642908, essv6259902, essv6385381, essv5517563, essv5415646, essv5560857, essv5577730, essv5755727, essv6590067, essv6208564, essv6130142, essv6125994, essv5487637, essv5546202, essv6256089, essv6073645, essv6521590, essv5456906, essv5665113, essv5927983, essv5424592, essv6438512, essv6549836, essv6253665, essv5684761, essv6026207, essv5989319, essv5882912, essv5681248, essv5799811, essv6455546, essv6590184, essv5993574, essv5836381, essv5522329, essv6361523, essv6195799, essv6341519, essv6519878, essv5600981, essv5551106, essv5790290, essv6301691, essv5672112, essv5807721, essv6311506, essv6319773, essv5546976, essv6284116, essv5857957, essv5873512, essv5474546, essv5621139, essv6152595, essv5784253, essv5777792, essv6341098, essv6234641, essv5712373, essv5943501, essv6092800, essv5818555, essv6153683, essv6277244, essv5631582, essv5557127, essv6245928, essv6040456, essv5474580, essv5468037, essv6026416, essv6196632, essv6264493, essv5804789, essv5439547, essv6293530, essv6476737, essv6068556, essv5528505, essv6485589, essv6412974, essv6091537, essv5934840, essv5578894, essv5768009, essv6137563, essv6439895, essv6207955, essv5480889, essv5805252, essv5465785, essv6355644, essv6395679, essv6482378, essv6023560, essv5600189, essv5499973, essv6426793, essv5404661, essv5871088, essv5911191, essv6204918, essv6216547, essv6014694, essv6002302, essv6298361, essv5561763, essv6155853, essv6529835, essv6128530, essv5826404, essv5588271, essv5904259, essv6130661, essv6525442, essv5475550
SamplesNA20588, NA12383, HG00542, NA19058, NA19703, HG00608, NA18947, NA19664, HG00242, NA19204, NA20783, NA12843, NA11931, HG00257, HG01066, NA20816, NA18999, NA20802, NA20512, HG00244, NA12751, NA20294, NA19377, HG00737, HG00449, NA19443, NA20356, NA19920, NA12750, HG00693, NA18988, NA12813, NA19446, NA07346, NA19171, NA19379, NA18940, NA18519, HG00589, HG01351, NA18558, HG01492, NA18574, NA18571, HG01083, HG00334, NA20291, NA19079, NA19720, HG01080, NA20278, HG00335, NA20775, NA20812, HG00325, NA11932, NA19238, NA12044, HG00160, HG01198, NA18557, HG01133, HG00323, HG01550, HG00253, NA12777, HG00154, NA18951, NA18605, HG00731, HG00557, NA12878, NA18933, NA20521, HG01095, HG00657, NA18579, NA18572, NA18981, NA18537, NA19654, HG01102, HG00284, NA18573, NA11919, HG00651, NA19084, HG00690, HG00531, NA11893, HG00684, NA18912, NA18553, NA19059, NA19761, NA18555, HG00152, NA19452, NA18963, NA19469, HG00246, NA19395, NA18570, HG00126, NA18593, NA12546, NA18974, NA18953, NA20799, HG00611, NA18632, NA19652, HG00254, NA19390, NA19147, NA19712, NA19434, NA18564, NA18628, NA12272, HG01551, NA19444, NA19331, NA20520, NA20790, HG01375, NA19835, NA19470, NA20544, HG00116, NA18615, HG01489, HG01342, NA12347, NA06994, HG00513, NA19779, HG00342, NA19716, NA19468, NA19093, NA20289, NA18873, HG00112, NA19770, NA19080, NA20826, NA19780, NA11892, HG01111, NA18968, NA20585, NA19063, NA19065, NA18612, NA19676, NA18620, HG01516, HG01441, NA19648, HG00592, HG01356, NA20543, HG00536, NA19397, HG00187, NA18980, NA20531, HG01389, NA20813, NA20532, NA18603, NA12045, HG00367, HG01465, NA12004, NA18596, HG00566, NA12058, NA18606, NA20346, HG00177, HG00150, NA20507, NA18870, NA20537, NA19374, NA19068, NA19396, HG00127, NA20796, NA19005, HG01070, NA19382, NA19448, NA18595, HG01488, HG00702, NA19723, NA20317, NA20769, NA19197, NA12283, NA19088, HG00247, NA19138, HG00369, NA18964, NA18611, NA19383, NA06984, HG01170, NA19137, NA20340, NA19371, HG00422, HG00309, NA18520, NA12828, NA19451, NA18638, HG00739, HG00264, HG00464, NA19007, HG00188, NA19437, NA19082, NA19707, HG00145, NA20524, HG01384, NA19077, NA19462, HG00190, HG00653, NA18956, NA20536, NA19391, HG00533, HG00500, HG01390, NA18566, HG01094, NA19449, NA11894, NA18856, NA12249, NA12892, HG00613, HG00525, HG00321, NA18853, NA12827, NA19225, HG00141, NA18634, NA20534, HG01204, NA19436, HG00476, HG00124, NA20773, NA20522, NA12716, NA11881, HG00285, NA18961, NA18543, NA12775, NA18950, HG01253, NA19435, NA18941, NA19380, NA20785, NA19467, NA20516, NA07037, NA19085, HG00269, HG00125, NA20341, NA19759, NA19248, HG01491, HG00312, NA19438, NA20582, HG00421, HG00656, HG00174, NA12830, HG00186, NA20807, HG00343, NA20528, NA18552, HG00252, NA18984, NA18505, HG01378, NA19004, HG00345, NA18549, HG01061, HG00437, NA12776
Known GenesSLC1A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672076
Frequency
Sample Size1151
Observed Gain0
Observed Loss308
Observed Complex0
Frequencyn/a


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