A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594306



Internal ID6981626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217091168..217092550hg38UCSC Ensembl
Innerchr2:217091168..217092550hg38UCSC Ensembl
Outerchr2:217091168..217092550hg38UCSC Ensembl
chr2:217955891..217957273hg19UCSC Ensembl
Innerchr2:217955891..217957273hg19UCSC Ensembl
Outerchr2:217955891..217957273hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381383
hg191383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10846562, essv10846711, essv10846662, essv10846551, essv10846532, essv10846512, essv10846506, essv10846507, essv10846486, essv10846589, essv10846520, essv10846482, essv10846602, essv10846686, essv10846518, essv10846621, essv10846604, essv10846479, essv10846598, essv10846720, essv10846696, essv10846544, essv10846619, essv10846703, essv10846466, essv10846576, essv10846474, essv10846620, essv10846597, essv10846618, essv10846594, essv10846543, essv10846548, essv10846719, essv10846690, essv10846530, essv10846691, essv10846701, essv10846613, essv10846492, essv10846497, essv10846707, essv10846571, essv10846557, essv10846502, essv10846593, essv10846471, essv10846640, essv10846584, essv10846715, essv10846672, essv10846500, essv10846667, essv10846684, essv10846480, essv10846545, essv10846717, essv10846705, essv10846700, essv10846465, essv10846550, essv10846508, essv10846611, essv10846712, essv10846485, essv10846537, essv10846524, essv10846605, essv10846713, essv10846578, essv10846468, essv10846656, essv10846558, essv10846511, essv10846669, essv10846540, essv10846583, essv10846668, essv10846495, essv10846560, essv10846504, essv10846596, essv10846517, essv10846484, essv10846714, essv10846685, essv10846588, essv10846490, essv10846561, essv10846483, essv10846585, essv10846681, essv10846654, essv10846614, essv10846624, essv10846694, essv10846612, essv10846716, essv10846675, essv10846632, essv10846658, essv10846475, essv10846630, essv10846586, essv10846523, essv10846633, essv10846573, essv10846476, essv10846496, essv10846674, essv10846687, essv10846627, essv10846622, essv10846470, essv10846553, essv10846678, essv10846501, essv10846568, essv10846509, essv10846498, essv10846533, essv10846615, essv10846644, essv10846664, essv10846643, essv10846554, essv10846600, essv10846539, essv10846528, essv10846689, essv10846671, essv10846547, essv10846655, essv10846516, essv10846639, essv10846607, essv10846513, essv10846708, essv10846665, essv10846651, essv10846631, essv10846494, essv10846680, essv10846563, essv10846491, essv10846575, essv10846515, essv10846723, essv10846478, essv10846704, essv10846488, essv10846657, essv10846702, essv10846625, essv10846481, essv10846521, essv10846587, essv10846534, essv10846522, essv10846666, essv10846552, essv10846724, essv10846641, essv10846472, essv10846663, essv10846542, essv10846606, essv10846595, essv10846493, essv10846503, essv10846660, essv10846648, essv10846617, essv10846555, essv10846582, essv10846699, essv10846510, essv10846616, essv10846706, essv10846673, essv10846581, essv10846565, essv10846599, essv10846591, essv10846535, essv10846693, essv10846564, essv10846527, essv10846683, essv10846514, essv10846722, essv10846592, essv10846650, essv10846721, essv10846536, essv10846477, essv10846653, essv10846636, essv10846467, essv10846505, essv10846645, essv10846549, essv10846574, essv10846538, essv10846603, essv10846531, essv10846698, essv10846688, essv10846559, essv10846570, essv10846646, essv10846609, essv10846709, essv10846628, essv10846526, essv10846692, essv10846661, essv10846577, essv10846635, essv10846525, essv10846679, essv10846634, essv10846637, essv10846572, essv10846695, essv10846623, essv10846541, essv10846642, essv10846718, essv10846710, essv10846652, essv10846469, essv10846670, essv10846677, essv10846676, essv10846580, essv10846487, essv10846529, essv10846579, essv10846473, essv10846567, essv10846601, essv10846566, essv10846629, essv10846626, essv10846610, essv10846499, essv10846649, essv10846638, essv10846569, essv10846697, essv10846590, essv10846647, essv10846682, essv10846659, essv10846546, essv10846519, essv10846608, essv10846556, essv10846489
SamplesNA18502, NA19028, HG03484, NA12842, NA19703, NA18861, HG01885, NA19378, HG03300, HG03241, HG02231, HG03449, HG01066, HG00233, HG03115, HG03455, HG02624, NA18504, HG03295, HG03515, HG02215, HG00115, NA20356, HG03069, HG00097, NA20359, HG02769, NA20806, HG03133, HG03436, HG03168, NA19315, HG01702, HG02952, HG02645, HG01761, NA19904, NA19384, HG02816, HG02981, NA19923, HG02143, HG04183, NA20278, NA18868, NA19024, NA19207, HG02642, HG00160, HG02545, NA20355, HG03073, NA20342, NA19025, NA20127, HG00253, NA19027, HG02479, HG03343, HG02943, NA19908, NA12760, HG00731, HG03511, NA12878, NA18933, NA19984, NA19184, HG01879, NA19455, NA19043, HG01077, NA20875, HG02014, HG03027, HG01607, HG03829, HG02429, NA18879, HG02445, HG03446, HG02309, HG02881, NA19099, HG01334, HG02666, HG01680, NA19318, HG02635, HG01697, NA19395, HG02896, NA19625, NA12546, HG01625, HG02722, HG03064, HG02330, NA19256, NA19149, NA19147, HG03437, NA20276, NA19747, NA19454, NA18865, HG02982, NA19324, HG03304, HG02464, NA18501, NA06994, HG02971, HG02095, HG03849, NA19474, HG03063, HG03060, HG02768, HG03872, HG01914, HG01431, NA19430, NA19129, HG00171, NA12006, HG02805, HG04153, HG04061, HG02643, HG03439, NA19429, HG00553, NA19431, HG03514, HG02614, HG03096, HG00235, HG00231, NA19794, NA18924, NA19466, HG03548, HG02973, NA20899, HG03057, NA20531, NA18917, HG03280, NA19393, HG03100, HG04018, NA12058, NA18870, HG03199, HG03082, NA19201, HG03135, HG03499, HG03490, HG04144, HG02620, NA19916, HG00736, HG03105, NA18498, HG03479, HG01110, HG02489, HG02505, NA12282, HG02493, HG03556, HG02573, HG02885, NA19471, NA19317, HG02420, HG01440, NA20884, HG03225, HG02946, NA19209, HG03583, HG02715, HG03048, HG01603, NA21106, HG02570, NA19247, NA19210, HG01248, NA19437, HG03160, HG02233, NA18934, HG02582, HG00190, NA20809, NA20536, NA20126, NA19658, HG02976, HG02537, HG02221, HG01049, HG03294, HG03311, HG03123, NA19118, HG02817, HG03202, NA18499, HG02884, HG02283, HG03391, NA19257, HG01890, NA19035, NA20296, HG02813, HG02613, NA19206, NA18909, HG03240, HG02799, HG03367, HG02501, HG01915, NA19037, HG02651, NA19380, NA19144, HG03127, NA19310, HG02685, HG03557, NA20357, NA19376, NA19323, HG03039, HG02974, NA19438, HG03025, NA20334, HG01085, HG02679, HG01781, NA19213, HG03538, HG02051, HG01883, HG00372, HG03445, HG03922, NA19146, HG01566, NA18511, HG02629, HG01923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594306
Frequency
Sample Size2504
Observed Gain0
Observed Loss260
Observed Complex0
Frequencyn/a


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