A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629405



Internal ID6669545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46634827..46639526hg38UCSC Ensembl
chr12:47028610..47033309hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474319, essv14474188, essv14474257, essv14474563, essv14474369, essv14474418, essv14474402, essv14474416, essv14474471, essv14474221, essv14474537, essv14474571, essv14474428, essv14474324, essv14474210, essv14474334, essv14474392, essv14474374, essv14474310, essv14474382, essv14474238, essv14474198, essv14474349, essv14474447, essv14474235, essv14474327, essv14474240, essv14474331, essv14474277, essv14474379, essv14474530, essv14474220, essv14474404, essv14474259, essv14474262, essv14474225, essv14474415, essv14474368, essv14474533, essv14474501, essv14474183, essv14474557, essv14474239, essv14474480, essv14474412, essv14474278, essv14474341, essv14474360, essv14474458, essv14474361, essv14474285, essv14474185, essv14474365, essv14474509, essv14474253, essv14474335, essv14474344, essv14474393, essv14474493, essv14474475, essv14474388, essv14474363, essv14474206, essv14474547, essv14474578, essv14474202, essv14474275, essv14474255, essv14474567, essv14474248, essv14474551, essv14474515, essv14474544, essv14474413, essv14474574, essv14474521, essv14474265, essv14474538, essv14474445, essv14474338, essv14474214, essv14474333, essv14474205, essv14474376, essv14474451, essv14474350, essv14474354, essv14474211, essv14474534, essv14474406, essv14474237, essv14474316, essv14474201, essv14474424, essv14474244, essv14474572, essv14474389, essv14474342, essv14474565, essv14474270, essv14474292, essv14474269, essv14474580, essv14474212, essv14474573, essv14474481, essv14474375, essv14474399, essv14474438, essv14474531, essv14474429, essv14474247, essv14474359, essv14474317, essv14474456, essv14474357, essv14474213, essv14474569, essv14474408, essv14474189, essv14474403, essv14474348, essv14474336, essv14474321, essv14474266, essv14474390, essv14474199, essv14474443, essv14474414, essv14474297, essv14474227, essv14474306, essv14474192, essv14474523, essv14474556, essv14474284, essv14474267, essv14474352, essv14474271, essv14474236, essv14474216, essv14474381, essv14474264, essv14474226, essv14474304, essv14474548, essv14474325, essv14474427, essv14474358, essv14474282, essv14474288, essv14474465, essv14474490, essv14474231, essv14474318, essv14474421, essv14474330, essv14474386, essv14474215, essv14474256, essv14474476, essv14474486, essv14474495, essv14474228, essv14474542, essv14474489, essv14474514, essv14474397, essv14474243, essv14474466, essv14474446, essv14474280, essv14474287, essv14474339, essv14474570, essv14474245, essv14474496, essv14474426, essv14474187, essv14474279, essv14474337, essv14474511, essv14474186, essv14474431, essv14474485, essv14474307, essv14474520, essv14474329, essv14474322, essv14474488, essv14474434, essv14474367, essv14474546, essv14474469, essv14474464, essv14474346, essv14474197, essv14474435, essv14474400, essv14474268, essv14474516, essv14474355, essv14474422, essv14474436, essv14474442, essv14474385, essv14474562, essv14474351, essv14474478, essv14474410, essv14474208, essv14474193, essv14474459, essv14474440, essv14474500, essv14474274, essv14474455, essv14474409, essv14474448, essv14474550, essv14474449, essv14474249, essv14474261, essv14474232, essv14474281, essv14474502, essv14474461, essv14474433, essv14474524, essv14474472, essv14474308, essv14474513, essv14474401, essv14474301, essv14474526, essv14474258, essv14474209, essv14474575, essv14474384, essv14474364, essv14474299, essv14474453, essv14474200, essv14474492, essv14474366, essv14474417, essv14474432, essv14474419, essv14474207, essv14474233, essv14474479, essv14474535, essv14474315, essv14474190, essv14474407, essv14474222, essv14474559, essv14474326, essv14474566, essv14474276, essv14474312, essv14474543, essv14474519, essv14474219, essv14474483, essv14474508, essv14474444, essv14474291, essv14474343, essv14474532, essv14474497, essv14474437, essv14474452, essv14474332, essv14474470, essv14474320, essv14474263, essv14474373, essv14474313, essv14474549, essv14474553, essv14474294, essv14474552, essv14474405, essv14474305, essv14474309, essv14474454, essv14474303, essv14474272, essv14474252, essv14474395, essv14474295, essv14474525, essv14474251, essv14474577, essv14474527, essv14474345, essv14474518, essv14474467, essv14474224, essv14474290, essv14474323, essv14474503, essv14474328, essv14474498, essv14474246, essv14474505, essv14474260, essv14474242, essv14474463, essv14474579, essv14474204, essv14474302, essv14474300, essv14474491, essv14474293, essv14474298, essv14474286, essv14474545, essv14474539, essv14474499, essv14474560, essv14474203, essv14474254, essv14474558, essv14474377, essv14474229, essv14474555, essv14474314, essv14474241, essv14474529, essv14474487, essv14474439, essv14474380, essv14474283, essv14474356, essv14474536, essv14474195, essv14474441, essv14474371, essv14474250, essv14474494, essv14474191, essv14474289, essv14474184, essv14474194, essv14474576, essv14474411, essv14474391, essv14474387, essv14474504, essv14474564, essv14474482, essv14474510, essv14474311, essv14474425, essv14474474, essv14474273, essv14474541, essv14474460, essv14474581, essv14474362, essv14474234, essv14474378, essv14474477, essv14474353, essv14474340, essv14474394, essv14474457, essv14474528, essv14474370, essv14474506, essv14474218, essv14474468, essv14474430, essv14474398, essv14474540, essv14474296, essv14474450, essv14474347, essv14474217, essv14474522, essv14474383, essv14474420, essv14474561, essv14474230, essv14474507, essv14474484, essv14474423, essv14474582, essv14474517, essv14474462, essv14474372, essv14474568, essv14474396, essv14474196, essv14474512, essv14474473, essv14474554, essv14474223
SamplesNA18502, HG00650, HG02944, HG02496, HG00608, HG02385, HG00671, NA18861, HG00559, HG01031, HG04060, HG02375, HG03111, HG03517, HG03247, HG02419, HG02836, HG02798, NA18528, HG02012, NA19350, NA18639, NA20294, HG03455, HG02017, HG01802, NA18878, HG03295, NA18530, NA18959, HG03515, HG02154, HG02356, HG03372, NA19067, NA18602, HG03478, NA18627, NA19107, HG02792, HG00717, NA18563, HG01873, NA19089, NA18940, HG00589, HG03016, HG02185, NA19315, HG03452, NA19764, HG02156, HG03091, HG02595, HG02756, HG02521, NA18993, HG03913, NA18960, HG02085, NA18574, NA18582, HG03578, HG02054, HG01840, HG00451, NA19904, HG00537, HG02981, HG02143, NA19041, HG03817, HG03910, HG03520, HG03212, HG01849, HG00534, NA18748, HG02178, NA19239, NA18557, NA18985, NA19025, NA20127, HG03649, HG02477, HG02409, NA19027, HG02134, NA18645, HG02943, HG02442, NA18951, NA18605, HG00443, NA19091, NA19070, NA19670, NA18525, HG02075, HG03088, HG01857, NA18933, HG02678, NA19984, HG00657, NA19184, HG01879, HG02084, HG03711, HG02887, NA19081, HG03159, NA18572, HG01323, NA18981, HG00692, HG03472, NA18573, NA19461, NA18879, NA19084, HG00690, HG00531, HG01870, HG02141, NA18532, NA18553, HG02979, NA18555, NA19452, NA18963, HG02332, HG04176, HG02635, NA19395, HG02896, HG01988, NA18858, HG01956, HG02772, NA19017, HG01812, NA18632, NA19440, HG01597, NA19149, NA19147, NA18517, NA18564, NA19019, HG02088, NA18628, NA19454, HG02721, HG03117, HG01874, NA19331, NA19010, HG02982, HG01866, HG00473, HG02941, HG02274, NA19324, HG02464, HG01798, NA19083, NA20281, HG03727, HG00662, HG00620, HG03103, HG02371, HG00614, HG02379, HG00513, NA18631, HG02367, HG03066, HG01846, HG02116, NA19102, HG02013, HG02182, HG00728, HG00595, HG02855, NA19129, NA19011, HG02020, NA19463, HG02351, NA19063, NA19346, HG00581, NA18620, HG00593, NA18998, HG02614, HG00881, HG02339, HG03800, HG02610, HG02652, HG02250, HG02583, NA19914, HG01860, NA18980, HG04202, NA19020, NA18877, NA18603, HG03130, NA19092, HG03280, HG02476, HG00699, HG02058, HG00452, HG03100, NA18606, HG03297, NA20346, HG00879, NA19098, NA19314, HG02023, NA18967, NA19005, NA18944, NA18550, HG03640, HG03135, HG02810, HG02407, HG03499, HG02485, HG00689, HG02541, NA20317, NA18619, HG03485, HG01843, NA19131, NA18942, HG00610, HG02854, NA19197, HG03105, HG00851, NA19023, HG03479, HG02786, NA18611, HG02505, HG03209, HG03460, NA18970, HG01067, NA19383, HG02395, NA18874, HG03268, HG02067, HG01813, NA19137, HG02885, HG01046, HG03195, NA19385, NA19471, NA18986, HG03352, NA19189, HG02946, HG03055, NA18640, HG03114, HG02715, NA18954, HG00419, HG03270, HG00543, HG03902, HG02166, HG02439, HG02136, NA19082, HG01871, HG01797, HG00596, HG02152, NA19347, HG01864, NA19327, NA19913, HG01612, HG01088, NA19236, NA18939, NA18516, HG00436, HG03428, HG00533, HG00598, HG00500, HG03756, HG02968, NA18976, HG02470, HG01852, NA18630, HG02537, HG00619, HG00708, NA18566, HG03563, NA19000, HG03382, HG00844, HG03202, NA18499, HG02048, HG01182, NA19001, NA18853, HG03391, NA19257, HG02184, NA19225, HG02031, NA18536, HG00410, NA18634, HG03109, HG02408, HG01596, HG01990, NA19035, NA18608, NA19401, NA19308, HG02613, NA18542, HG02282, HG02807, NA19834, HG02799, HG01800, NA18941, HG00638, HG01958, HG02314, NA19334, NA18992, HG03127, HG00607, NA18591, HG03419, NA19475, NA20357, NA19078, HG00446, HG03442, HG00409, HG03896, NA19472, HG00421, HG00656, HG02938, NA18994, HG02392, HG02462, HG02113, HG03615, HG02410, HG01817, HG00698, NA19096, HG01872, NA18552, HG03538, HG01883, HG00472, HG01464, HG01863, HG03072, HG00759, NA18511, HG02284, HG01869, NA18522, HG02343, HG00978, HG00437, NA19153, NA18562, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629405
Frequency
Sample Size2504
Observed Gain0
Observed Loss400
Observed Complex0
Frequencyn/a


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