A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16e199



Internal ID22757789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13382063..13448125hg38UCSC Ensembl
chr1:13692845..13774592hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3866063
hg1981748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677250, esv2660387
SamplesNA20509, NA20588, NA19394, NA19701, NA20761, HG00650, HG00542, HG00442, NA20529, NA19703, HG00608, NA20766, NA20508, NA19664, HG00671, HG00559, NA19399, NA20783, NA20514, NA20816, NA20752, NA20802, NA20512, NA19350, NA19359, NA20294, NA19355, NA20332, NA19684, NA19377, HG00449, NA20517, HG00654, NA19443, NA20356, NA19920, NA20771, NA20806, HG00693, HG00663, NA20814, NA19446, NA19373, NA19379, HG00589, NA19319, NA19315, NA20798, NA20589, NA19678, NA20774, NA20756, NA20795, NA20768, NA19457, NA20287, NA19904, NA19384, HG00537, NA20291, HG00512, NA20759, NA20539, NA19720, NA20518, NA20278, NA20775, NA20812, NA19372, HG00534, HG00705, NA19722, NA20342, NA20757, NA20127, NA19985, NA20515, NA19789, NA20755, NA19921, NA20753, NA20535, NA19908, NA20800, HG00443, NA19403, HG00557, HG00657, NA20810, NA20760, NA19717, NA19455, NA20314, NA19663, HG00556, HG00583, NA20519, HG00692, NA20525, NA19654, NA19461, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, NA19750, NA19453, NA19761, NA19452, HG00704, NA19682, HG00463, NA19469, NA19318, NA19395, NA19625, NA19375, NA20799, NA19729, HG00611, NA19652, NA19440, NA19390, HG00625, NA20276, NA19712, NA19434, NA19747, NA20815, HG00580, NA19444, NA19331, NA20520, NA20790, NA20530, NA20527, NA19835, HG00473, NA20792, NA20778, NA19679, NA19470, NA19428, NA19324, NA19311, NA20544, NA20281, NA19360, NA19783, HG00662, HG00418, HG00620, NA19328, HG00614, HG00513, HG00478, NA19785, NA19779, NA19716, NA19468, NA19474, NA20510, NA20289, NA20786, NA19770, NA20758, NA20826, NA19780, NA19711, NA20503, HG00595, NA20502, NA19430, NA19316, NA19312, HG00628, NA19463, NA20585, NA20754, NA19429, NA19346, HG00581, NA19431, NA20772, NA19676, HG00593, HG00626, HG00403, NA19648, NA19700, HG00592, NA20543, HG00536, NA19397, NA19466, HG00524, NA19914, NA19332, NA19704, NA20531, NA20813, NA20532, HG00699, NA19819, NA19393, NA19777, HG00566, NA20808, NA20346, NA20507, NA20537, NA19374, NA19746, NA19396, NA19660, NA19381, NA20796, HG00501, NA19382, NA19762, NA19728, NA19448, HG00702, HG00689, HG00448, NA20586, NA19723, NA20317, NA19916, NA20769, HG00634, HG00610, NA20540, NA19771, NA19313, NA20513, NA19782, NA19681, NA20336, HG00590, NA20541, NA19404, NA19651, NA19383, HG00683, NA20819, NA19917, NA19719, NA20340, NA19371, NA19731, NA19385, HG00422, NA19471, NA19317, HG00427, NA20811, NA19901, NA19725, NA19456, NA19445, NA20533, HG00530, HG00419, NA19451, HG00464, NA20818, HG00543, HG00560, HG00629, NA19657, NA19437, NA19707, NA20787, HG00596, NA20524, NA20505, HG00428, NA19462, NA19347, NA20809, HG00653, HG00577, HG00701, NA20536, NA19391, NA19327, HG00475, HG00436, NA19982, HG00584, HG00533, HG00500, NA19788, NA20506, NA20126, NA20770, NA20344, HG00619, NA19776, HG00708, HG00635, NA20299, NA19774, NA19449, NA19655, NA20538, HG00613, HG00525, NA20282, NA19338, NA20828, NA19756, NA20542, NA20534, NA19675, NA19436, NA20765, NA20526, NA20296, NA19685, NA19401, HG00476, NA20773, NA20522, NA20801, NA19834, NA19321, NA19749, HG00565, NA19473, NA19732, NA19435, NA20804, NA19773, NA19380, NA20785, NA19334, HG00607, NA19439, NA20504, NA19786, NA19467, NA20516, NA20803, NA20797, NA20341, NA19818, NA19759, NA19376, NA19398, HG00707, HG00672, NA20348, HG00578, NA19438, NA20582, NA19472, HG00421, HG00656, NA20334, NA19713, NA20807, HG00698, NA19726, NA20528, NA19661, HG00472, NA19755, NA19758, NA20322, HG00437
Known GenesPRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv16e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss374
Observed Complex0
Frequencyn/a


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