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 Variantsessv14474493, essv14474435, essv14474447, essv14474472, essv14474318, essv14474465, essv14474266, essv14474385, essv14474559, essv14474534, essv14474281, essv14474413, essv14474198, essv14474404, essv14474458, essv14474192, essv14474243, essv14474312, essv14474337, essv14474368, essv14474216, essv14474362, essv14474220, essv14474225, essv14474354, essv14474527, essv14474199, essv14474211, essv14474355, essv14474459, essv14474280, essv14474241, essv14474507, essv14474259, essv14474445, essv14474464, essv14474555, essv14474531, essv14474558, essv14474244, essv14474521, essv14474440, essv14474551, essv14474338, essv14474279, essv14474276, essv14474373, essv14474185, essv14474538, essv14474251, essv14474388, essv14474327, essv14474366, essv14474530, essv14474320, essv14474572, essv14474204, essv14474289, essv14474264, essv14474554, essv14474196, essv14474466, essv14474426, essv14474352, essv14474486, essv14474546, essv14474247, essv14474390, essv14474209, essv14474539, essv14474391, essv14474307, essv14474306, essv14474351, essv14474193, essv14474205, essv14474258, essv14474284, essv14474358, essv14474311, essv14474348, essv14474418, essv14474417, essv14474478, essv14474556, essv14474287, essv14474460, essv14474411, essv14474480, essv14474496, essv14474441, essv14474428, essv14474349, essv14474254, essv14474346, essv14474227, essv14474403, essv14474420, essv14474402, essv14474452, essv14474462, essv14474210, essv14474188, essv14474315, essv14474213, essv14474386, essv14474200, essv14474504, essv14474528, essv14474189, essv14474234, essv14474495, essv14474541, essv14474377, essv14474461, essv14474482, essv14474564, essv14474222, essv14474518, essv14474549, essv14474363, essv14474474, essv14474573, essv14474223, essv14474294, essv14474364, essv14474553, essv14474560, essv14474438, essv14474300, essv14474214, essv14474290, essv14474410, essv14474499, essv14474187, essv14474184, essv14474215, essv14474425, essv14474483, essv14474332, essv14474389, essv14474557, essv14474183, essv14474567, essv14474566, essv14474194, essv14474444, essv14474516, essv14474490, essv14474545, essv14474298, essv14474257, essv14474533, essv14474453, essv14474249, essv14474357, essv14474379, essv14474503, essv14474295, essv14474484, essv14474536, essv14474429, essv14474543, essv14474568, essv14474392, essv14474336, essv14474339, essv14474400, essv14474433, essv14474224, essv14474470, essv14474485, essv14474548, essv14474562, essv14474487, essv14474498, essv14474582, essv14474231, essv14474271, essv14474571, essv14474469, essv14474245, essv14474369, essv14474285, essv14474359, essv14474537, essv14474262, essv14474322, essv14474263, essv14474296, essv14474401, essv14474439, essv14474302, essv14474252, essv14474203, essv14474526, essv14474547, essv14474293, essv14474301, essv14474408, essv14474448, essv14474208, essv14474191, essv14474501, essv14474406, essv14474576, essv14474361, essv14474488, essv14474330, essv14474384, essv14474431, essv14474190, essv14474396, essv14474412, essv14474577, essv14474303, essv14474427, essv14474238, essv14474340, essv14474347, essv14474328, essv14474299, essv14474437, essv14474375, essv14474515, essv14474253, essv14474422, essv14474423, essv14474454, essv14474305, essv14474240, essv14474275, essv14474274, essv14474371, essv14474514, essv14474513, essv14474565, essv14474212, essv14474378, essv14474250, essv14474529, essv14474334, essv14474229, essv14474286, essv14474353, essv14474508, essv14474519, essv14474520, essv14474525, essv14474476, essv14474524, essv14474500, essv14474506, essv14474455, essv14474228, essv14474269, essv14474463, essv14474532, essv14474201, essv14474288, essv14474268, essv14474398, essv14474365, essv14474246, essv14474261, essv14474282, essv14474552, essv14474202, essv14474325, essv14474374, essv14474219, essv14474511, essv14474283, essv14474479, essv14474233, essv14474505, essv14474333, essv14474350, essv14474383, essv14474226, essv14474217, essv14474409, essv14474230, essv14474473, essv14474197, essv14474451, essv14474292, essv14474397, essv14474399, essv14474321, essv14474512, essv14474517, essv14474260, essv14474367, essv14474581, essv14474324, essv14474380, essv14474421, essv14474218, essv14474317, essv14474395, essv14474436, essv14474544, essv14474239, essv14474497, essv14474345, essv14474416, essv14474580, essv14474326, essv14474419, essv14474394, essv14474304, essv14474248, essv14474540, essv14474237, essv14474550, essv14474255, essv14474509, essv14474376, essv14474344, essv14474434, essv14474457, essv14474265, essv14474432, essv14474415, essv14474232, essv14474456, essv14474316, essv14474387, essv14474442, essv14474569, essv14474273, essv14474430, essv14474542, essv14474206, essv14474578, essv14474195, essv14474270, essv14474356, essv14474414, essv14474492, essv14474405, essv14474475, essv14474381, essv14474343, essv14474370, essv14474221, essv14474272, essv14474424, essv14474579, essv14474319, essv14474393, essv14474467, essv14474502, essv14474382, essv14474329, essv14474323, essv14474489, essv14474575, essv14474449, essv14474522, essv14474570, essv14474477, essv14474277, essv14474256, essv14474523, essv14474372, essv14474535, essv14474450, essv14474468, essv14474491, essv14474310, essv14474313, essv14474471, essv14474360, essv14474267, essv14474186, essv14474207, essv14474242, essv14474341, essv14474235, essv14474574, essv14474446, essv14474335, essv14474443, essv14474563, essv14474342, essv14474314, essv14474561, essv14474236, essv14474309, essv14474510, essv14474297, essv14474308, essv14474407, essv14474331, essv14474291, essv14474494, essv14474481, essv14474278
SamplesHG02470, HG02496, HG03135, HG02854, HG00537, HG02250, NA18605, HG02166, HG02810, HG02371, NA19904, HG03382, NA18951, NA19089, HG00619, HG01852, HG03479, NA18530, NA18630, NA19081, HG00978, HG01988, HG03711, HG00437, HG00500, HG03478, HG03563, HG02896, HG01800, NA20346, HG02088, HG02792, HG03247, HG02419, HG02152, NA18603, HG01031, HG00657, HG03452, HG03896, NA18516, HG00614, NA19334, HG03419, HG04060, NA19331, NA18517, HG02946, HG03111, NA19019, HG02375, HG00698, HG01958, HG03103, NA18994, HG00581, NA18963, HG02274, HG04176, NA19257, HG02613, NA19236, HG03268, HG00699, HG01860, HG03109, NA18557, NA19472, HG01840, NA18628, HG01597, HG02982, HG03817, NA19463, HG03088, NA18967, NA19239, NA19314, NA19984, NA18627, HG00593, HG02462, HG00421, NA18536, NA19197, NA19471, HG00759, NA19107, HG00728, HG01866, HG02772, HG00692, HG01088, HG02012, HG03442, NA19083, NA19096, HG02385, NA20127, HG02410, NA18959, HG00533, HG03520, HG03130, HG02143, HG01879, HG00451, HG02521, HG01596, HG03114, NA19082, HG00662, NA19324, NA19000, HG02392, HG00844, HG00620, HG03902, NA19395, NA19153, HG02442, NA18640, NA18620, NA18645, NA19129, NA19189, HG02185, HG02537, HG03195, NA18525, HG02054, HG03391, NA18572, NA18954, HG03209, HG02178, HG02541, NA18939, HG03455, NA19027, NA18986, NA19102, HG00559, NA18522, HG03649, NA19005, HG00851, HG02786, NA18502, HG03472, HG02439, HG02807, NA19098, NA18941, HG02017, HG02031, HG02343, HG02938, NA18748, NA18564, NA18858, NA18942, NA19347, HG03800, NA18878, NA19001, HG00513, HG03072, HG03428, HG00534, NA18562, NA19131, HG02084, HG02113, HG03297, NA19091, HG02614, NA18985, HG02395, HG00589, HG02085, HG02339, NA18606, HG00410, HG03352, NA18940, NA18619, NA18582, HG00595, NA18552, HG00443, HG02067, NA20357, HG02635, NA19035, HG03499, NA19078, HG00717, HG02182, NA19025, HG00650, HG02154, HG02351, NA19764, HG01872, HG02134, HG03913, HG02075, NA18631, HG00409, NA18602, HG00608, HG02141, HG03105, NA18879, NA19475, HG03615, NA19452, HG01802, NA20317, HG01464, NA18944, NA19041, NA19063, NA19225, NA19327, HG02408, HG00656, HG02678, HG01323, HG02464, NA18499, HG00708, HG02409, HG02476, HG03270, HG03640, NA19070, HG02721, NA19315, NA18611, HG02485, HG03016, NA19346, HG00690, HG03372, HG02136, NA18532, NA18574, NA18853, HG02798, HG03117, HG00473, NA18981, NA19350, HG00598, HG03515, HG03517, HG02013, HG02505, NA19454, HG00671, HG01857, HG02332, NA19092, HG01869, NA18555, NA19385, HG02855, HG01863, HG03460, HG02367, HG00531, NA18980, HG01067, NA18553, HG03091, HG01870, HG02282, HG02610, HG01864, HG02715, NA20281, NA19137, NA19913, HG00881, HG02477, HG01813, NA18861, HG00607, HG01798, HG01846, HG01612, NA18528, HG02116, HG02184, HG01817, HG03280, NA18933, HG04202, HG01046, HG01873, HG02023, NA18874, HG02407, HG00596, HG02284, HG02799, NA19401, HG00879, HG03055, HG03066, HG01849, HG03196, NA19149, NA18550, NA19023, HG03295, NA18511, NA18639, NA18993, NA20294, HG02979, NA19670, HG02943, NA18877, HG02048, NA18591, HG00452, HG01956, HG03212, HG02885, NA19010, HG02887, HG01883, HG02652, NA18573, NA18608, HG02944, NA18542, NA19184, HG00446, HG02379, NA19461, HG01182, HG02314, HG02020, NA19834, NA19017, HG02156, HG03538, HG01990, HG03485, HG01871, NA19084, HG01843, HG02583, NA19308, NA19147, HG03159, HG03756, HG01812, NA18632, HG02836, HG00543, NA19914, NA19067, HG02981, NA19383, NA18998, HG03127, HG03910, NA18992, HG00472, NA18566, HG00638, NA18960, HG03202, NA18563, NA19020, HG00610, NA19011, HG02968, HG03578, HG00689, HG03727, NA19440, HG00419, HG03100, NA18976, HG02356, HG02595, NA18634, HG02756, NA18970, HG01797, HG02941, HG00436, HG02058, HG01874
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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