A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv662e199



Internal ID20123964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53957891..53963638hg38UCSC Ensembl
chr19:54461145..54466892hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385748
hg195748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662305, esv2673256
SamplesHG00613, HG01441, NA19012, NA18621, HG00309, NA19312, HG00537, HG01440, NA19712, NA18595, NA18616, NA20771, HG00182, NA19904, NA20527, HG00619, NA18534, HG01353, NA18530, NA18535, NA18630, HG00418, NA19081, NA19819, HG00328, NA19437, HG00705, HG00437, HG00500, HG00171, NA20510, HG00274, HG00186, HG00464, NA20544, HG00565, NA19311, NA20531, NA19469, NA19435, NA18545, HG01389, HG00463, HG00657, NA19359, HG00614, HG01365, NA19334, HG00189, NA19331, NA19453, HG01488, HG00428, HG00475, NA18947, HG00542, HG00368, NA19449, NA19920, HG01350, NA18541, NA18546, NA19379, NA20539, HG00683, HG00698, NA20805, HG00334, HG00581, NA18963, HG00187, HG00404, HG00280, HG00335, HG01134, NA19701, HG00319, HG00699, NA18557, NA19472, NA20521, NA20803, NA18943, NA18950, HG00353, NA18596, NA18628, NA18949, HG00269, NA19077, NA19463, HG00556, HG01148, NA19085, HG00346, HG01384, NA18967, NA18627, NA19076, HG01375, NA19390, HG00421, HG01378, NA18635, NA19917, NA20811, NA18536, NA18622, NA19443, NA18623, NA19471, NA19444, NA20530, NA18617, NA18990, HG00692, NA18636, HG01124, NA19083, NA19088, HG00315, NA18956, NA19429, HG00338, NA18959, HG00533, NA18637, NA19075, HG00174, HG00634, HG00276, HG00284, NA19457, NA19700, HG00343, NA19082, HG00662, NA19000, NA19055, HG00373, NA19360, NA19313, HG01437, NA19395, NA19080, HG01465, NA19372, NA18633, HG00653, NA19374, NA19384, HG00325, NA20790, HG00185, NA18986, NA20753, HG00176, NA19002, HG00501, HG00672, NA18961, HG00277, HG01351, NA20815, NA20797, HG00524, NA20542, HG00534, NA20766, HG00525, HG01383, HG00377, NA19711, NA20813, NA18940, NA18987, HG00427, HG01137, NA18597, NA19921, NA19376, NA20756, NA19391, NA18538, NA19009, NA20518, NA18631, NA19431, NA20287, NA18544, NA19818, HG00608, HG00654, HG01390, NA18614, HG00530, NA18548, NA20810, HG00285, NA18944, NA19399, NA20812, HG00656, HG01366, HG00422, NA19371, NA20543, HG00708, NA19916, NA18610, NA19470, HG00367, NA20792, HG00693, NA18611, HG00566, HG01125, HG00320, HG00275, HG00324, HG00625, HG00690, NA20528, NA18549, NA18574, HG00183, HG00442, HG01374, HG00473, NA18981, NA19350, HG01462, HG01489, NA19079, NA19381, NA19473, NA20804, HG00626, HG00684, HG01377, NA18615, HG00336, HG00476, NA19448, NA20502, HG00671, NA19087, NA20772, HG00272, HG00345, NA19468, NA20538, HG00702, HG00704, NA19385, HG00271, HG00278, NA19007, NA20519, NA19456, NA19065, NA19058, NA19466, HG00531, NA18980, HG01354, NA18553, NA19439, HG00312, HG00327, HG00361, HG00323, HG00313, NA19445, NA19625, HG01359, NA19436, HG00318, HG00536, HG00607, NA20522, NA20809, NA20503, HG00344, NA20785, NA19404, NA18952, NA18975, HG01342, HG00369, NA18612, HG00596, NA19401, NA20508, HG00449, NA19060, HG00310, NA18550, NA19003, NA19072, HG00707, NA19455, NA20294, NA20775, NA18948, NA19430, HG01492, NA19451, NA19010, HG00375, NA19338, HG00173, HG00326, HG01491, NA20778, HG00270, NA19461, HG00190, HG00701, NA19834, NA20588, HG01461, HG00651, NA19004, HG00557, HG00366, HG00578, HG00331, NA19355, NA19474, NA19084, NA19467, HG00188, NA18626, HG00479, NA19438, NA20586, NA18632, HG00342, HG00635, NA20532, HG00543, NA18559, HG00321, HG00339, NA19914, NA20761, NA19428, NA20585, NA19383, NA19982, NA20533, NA18624, HG00179, HG01140, NA19054, NA19059, NA20515, HG00472, HG00583, HG00337, NA19068, HG00180, NA18563, NA18618, NA19900, NA20757, HG00610, NA20783, HG00372, NA20807, HG00689, NA19396, NA20754, HG00628, NA19397, NA18638, NA19398, NA19440, NA19066, NA20541, NA20765, HG00178, HG00419, NA18976, HG01136, NA19835, NA18982, NA19056, HG00403, HG00357, NA18634, NA20589, HG00584, NA19316, NA18539, HG00436, HG00620, NA19377, NA18537, NA18620, NA18572, NA19703, NA20536, HG00268, NA19375, NA20126, NA19373, HG00629, NA20826, HG00559, NA19713, NA20540, NA18977, NA18941, NA19901, HG00273, HG00282, HG01356, NA19704, NA20814, NA20818, HG00478, NA18942, NA19347, NA20828, NA19332, NA19909, NA18613, HG00513, NA20582, NA18988, HG00329, HG00512, NA19707, NA19074, NA19382, NA18974, NA18985, NA19462, HG00589, HG01149, NA18606, NA18543, NA18999, NA20581, NA20537, HG00590, HG00595, NA20534, NA18983, HG00443, NA18599, HG00181, NA18567, NA19078, HG00611, HG00650, NA19394, NA19403, NA18565, HG00663, NA18560, NA18989, HG00580, HG01112, NA18971, NA19434, HG00448, NA18602, NA18577, NA19446, NA20509, NA19452, NA20507, HG00281, NA19063
Known GenesCACNG8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv662e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss477
Observed Complex0
Frequencyn/a


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