Variant DetailsVariant: esv3593247 Internal ID | 6633527 | Landmark | | Location Information | | Cytoband | 2q24.3 | Allele length | Assembly | Allele length | hg38 | 3141 | hg19 | 3141 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv10747543, essv10747470, essv10747538, essv10747475, essv10747445, essv10747491, essv10747472, essv10747485, essv10747520, essv10747477, essv10747507, essv10747527, essv10747476, essv10747516, essv10747498, essv10747559, essv10747495, essv10747407, essv10747440, essv10747487, essv10747439, essv10747474, essv10747496, essv10747502, essv10747413, essv10747450, essv10747548, essv10747541, essv10747416, essv10747526, essv10747436, essv10747558, essv10747542, essv10747471, essv10747414, essv10747560, essv10747430, essv10747410, essv10747571, essv10747544, essv10747497, essv10747539, essv10747403, essv10747428, essv10747537, essv10747462, essv10747454, essv10747444, essv10747534, essv10747523, essv10747494, essv10747492, essv10747465, essv10747468, essv10747455, essv10747557, essv10747422, essv10747466, essv10747567, essv10747425, essv10747423, essv10747481, essv10747412, essv10747566, essv10747540, essv10747521, essv10747573, essv10747550, essv10747515, essv10747569, essv10747402, essv10747506, essv10747479, essv10747461, essv10747467, essv10747489, essv10747562, essv10747411, essv10747552, essv10747551, essv10747437, essv10747575, essv10747429, essv10747570, essv10747522, essv10747510, essv10747568, essv10747493, essv10747532, essv10747453, essv10747533, essv10747443, essv10747501, essv10747483, essv10747555, essv10747478, essv10747563, essv10747417, essv10747447, essv10747556, essv10747509, essv10747524, essv10747528, essv10747405, essv10747488, essv10747554, essv10747529, essv10747525, essv10747503, essv10747549, essv10747531, essv10747513, essv10747419, essv10747420, essv10747505, essv10747546, essv10747519, essv10747504, essv10747431, essv10747480, essv10747426, essv10747511, essv10747508, essv10747482, essv10747451, essv10747535, essv10747404, essv10747553, essv10747484, essv10747530, essv10747463, essv10747545, essv10747434, essv10747518, essv10747561, essv10747435, essv10747442, essv10747449, essv10747446, essv10747517, essv10747459, essv10747438, essv10747500, essv10747452, essv10747547, essv10747427, essv10747441, essv10747464, essv10747457, essv10747424, essv10747409, essv10747460, essv10747432, essv10747490, essv10747473, essv10747574, essv10747433, essv10747564, essv10747565, essv10747512, essv10747448, essv10747469, essv10747499, essv10747421, essv10747456, essv10747572, essv10747458, essv10747514, essv10747406, essv10747415, essv10747408, essv10747536, essv10747418, essv10747486 | Samples | HG01985, NA19701, NA19222, NA19700, HG02496, HG03121, NA19397, HG01303, HG03548, NA18508, HG03163, NA19399, HG03517, HG02318, HG03300, HG03241, HG02852, HG02891, HG03190, NA18878, NA20332, HG03515, HG02888, NA19098, HG03372, NA20356, NA19920, HG02895, HG02769, NA19107, HG03199, HG03082, HG03168, HG02810, HG02485, HG02325, NA19119, HG03485, NA19131, HG02860, NA18916, HG02645, HG03246, NA19023, HG01083, NA18498, HG03040, NA19904, NA19384, NA19130, HG02505, NA19923, HG02143, HG03556, HG03189, HG03268, HG01170, NA18868, HG02634, NA19917, NA19731, NA19235, NA19172, NA19317, HG01440, NA19026, HG02571, NA18520, HG02545, HG02623, NA19445, HG03055, NA20318, NA19921, NA19027, HG03270, HG02879, HG02479, HG02943, HG02442, HG02820, HG03054, HG03160, HG02582, NA19462, HG03547, NA19913, HG02108, NA19236, HG02554, NA19982, NA18915, HG02450, HG02144, HG02508, HG02968, HG01880, HG02555, NA18907, HG01392, HG03085, HG01311, HG02429, NA20299, NA19118, HG03202, HG03388, HG03078, HG01241, NA19320, NA20282, NA19225, HG03354, HG02332, HG02586, NA19395, HG02594, HG01988, HG03109, HG01107, HG02675, NA19035, HG03567, NA20296, HG03064, NA19206, HG03028, HG02282, NA19108, NA19256, HG03367, NA19712, NA19019, NA19454, HG02983, HG02721, HG01551, HG01253, NA19435, HG01958, HG02611, NA18865, HG03259, NA19324, HG02814, NA19143, NA20348, HG02971, NA19248, NA19472, NA19223, NA19713, HG03258, HG03351, NA19102, NA18873, HG02679, NA19096, NA19711, HG03538, HG03470, NA19900, HG02052, HG02855, NA19316, HG03376, HG02805, NA19463, HG02284, HG03303, NA19214, HG03166, HG03271, HG02760 | Known Genes | SCN9A | Method | Sequencing | Analysis | | Platform | Multiple platforms | Comments | | Reference | 1000_Genomes_Consortium_Phase_3 | Pubmed ID | 21293372 | Accession Number(s) | esv3593247
| Frequency | Sample Size | 2504 | Observed Gain | 0 | Observed Loss | 174 | Observed Complex | 0 | Frequency | n/a |
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