A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614037



Internal ID6654245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87679018..87681790hg38UCSC Ensembl
Innerchr7:87679018..87681790hg38UCSC Ensembl
Outerchr7:87679018..87681790hg38UCSC Ensembl
chr7:87308334..87311106hg19UCSC Ensembl
Innerchr7:87308334..87311106hg19UCSC Ensembl
Outerchr7:87308334..87311106hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg382773
hg192773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12879462, essv12879525, essv12879519, essv12879680, essv12879537, essv12879615, essv12879592, essv12879552, essv12879579, essv12879625, essv12879594, essv12879543, essv12879650, essv12879490, essv12879533, essv12879587, essv12879610, essv12879475, essv12879564, essv12879657, essv12879504, essv12879459, essv12879626, essv12879606, essv12879425, essv12879466, essv12879554, essv12879693, essv12879663, essv12879513, essv12879603, essv12879675, essv12879429, essv12879435, essv12879444, essv12879601, essv12879632, essv12879681, essv12879494, essv12879667, essv12879651, essv12879557, essv12879618, essv12879538, essv12879541, essv12879678, essv12879442, essv12879555, essv12879448, essv12879608, essv12879694, essv12879685, essv12879455, essv12879506, essv12879708, essv12879493, essv12879546, essv12879637, essv12879440, essv12879443, essv12879461, essv12879616, essv12879674, essv12879556, essv12879575, essv12879709, essv12879441, essv12879531, essv12879588, essv12879604, essv12879621, essv12879558, essv12879570, essv12879596, essv12879707, essv12879687, essv12879695, essv12879580, essv12879665, essv12879505, essv12879527, essv12879529, essv12879511, essv12879516, essv12879565, essv12879562, essv12879528, essv12879712, essv12879710, essv12879539, essv12879668, essv12879452, essv12879652, essv12879614, essv12879500, essv12879617, essv12879566, essv12879672, essv12879661, essv12879671, essv12879454, essv12879659, essv12879484, essv12879423, essv12879542, essv12879581, essv12879501, essv12879658, essv12879544, essv12879545, essv12879613, essv12879620, essv12879487, essv12879526, essv12879550, essv12879572, essv12879591, essv12879449, essv12879438, essv12879561, essv12879598, essv12879706, essv12879718, essv12879488, essv12879689, essv12879569, essv12879573, essv12879468, essv12879508, essv12879515, essv12879434, essv12879474, essv12879551, essv12879646, essv12879670, essv12879514, essv12879683, essv12879715, essv12879540, essv12879666, essv12879456, essv12879560, essv12879597, essv12879631, essv12879640, essv12879476, essv12879611, essv12879634, essv12879485, essv12879647, essv12879639, essv12879568, essv12879535, essv12879701, essv12879473, essv12879593, essv12879498, essv12879600, essv12879669, essv12879439, essv12879483, essv12879503, essv12879523, essv12879431, essv12879673, essv12879702, essv12879471, essv12879428, essv12879450, essv12879517, essv12879426, essv12879590, essv12879599, essv12879644, essv12879688, essv12879496, essv12879624, essv12879690, essv12879497, essv12879653, essv12879602, essv12879692, essv12879584, essv12879649, essv12879676, essv12879684, essv12879638, essv12879481, essv12879711, essv12879436, essv12879469, essv12879582, essv12879480, essv12879482, essv12879567, essv12879489, essv12879445, essv12879507, essv12879553, essv12879698, essv12879430, essv12879699, essv12879510, essv12879577, essv12879460, essv12879664, essv12879704, essv12879477, essv12879518, essv12879662, essv12879642, essv12879576, essv12879660, essv12879524, essv12879491, essv12879427, essv12879679, essv12879585, essv12879656, essv12879563, essv12879612, essv12879465, essv12879677, essv12879607, essv12879645, essv12879495, essv12879509, essv12879571, essv12879705, essv12879447, essv12879479, essv12879574, essv12879595, essv12879643, essv12879424, essv12879521, essv12879622, essv12879655, essv12879437, essv12879713, essv12879609, essv12879547, essv12879432, essv12879654, essv12879520, essv12879623, essv12879691, essv12879478, essv12879633, essv12879696, essv12879716, essv12879451, essv12879619, essv12879522, essv12879682, essv12879512, essv12879697, essv12879467, essv12879686, essv12879629, essv12879578, essv12879559, essv12879714, essv12879499, essv12879536, essv12879700, essv12879717, essv12879605, essv12879502, essv12879534, essv12879530, essv12879549, essv12879433, essv12879453, essv12879464, essv12879458, essv12879627, essv12879636, essv12879586, essv12879628, essv12879583, essv12879463, essv12879457, essv12879472, essv12879589, essv12879470, essv12879548, essv12879486, essv12879648, essv12879635, essv12879641, essv12879630, essv12879492, essv12879446, essv12879532, essv12879703
SamplesHG02140, HG02879, HG01878, HG02496, HG04225, NA19248, HG03160, HG03121, NA19030, HG00537, HG01926, NA19214, HG02675, NA19904, HG03351, HG01896, NA18630, HG00500, HG01882, HG01885, HG02601, NA11918, HG02792, NA19072, HG03247, HG00707, HG01079, HG01431, HG03133, NA19923, HG02952, NA18591, HG00452, HG02104, NA19451, HG03265, HG02722, HG04186, HG03653, NA19449, HG03616, HG02010, NA19920, HG03111, NA18542, NA20894, HG02105, HG03048, NA19019, HG01704, NA19461, HG02375, NA19379, HG01954, HG02471, HG02497, HG04118, HG00683, HG02676, NA20588, HG01708, NA18994, HG01920, HG00404, HG02156, HG02817, HG03019, HG03765, HG01101, NA19682, HG02613, HG04200, NA19701, HG04100, HG03199, HG02150, HG03378, HG02583, HG03039, NA18745, NA19308, NA19467, HG01968, NA18873, HG00479, HG03049, NA19143, HG02895, HG02836, HG02402, NA18559, HG02053, HG02420, NA19383, HG01086, NA18979, HG00346, HG01363, HG03127, NA18508, HG01092, NA19735, HG01375, HG00421, HG00349, HG03300, HG03882, NA19057, NA19917, HG00638, HG02716, HG01938, NA19443, NA19107, HG03867, NA21127, HG01572, HG01866, HG01495, HG01272, HG02090, NA18856, NA19083, HG01815, HG04194, NA18876, HG02410, HG02763, HG03793, HG03520, HG01501, HG03130, HG03583, HG01977, HG01997, HG02078, HG03100, HG03539, NA11831, NA18973, HG04042, NA18916, NA19681, NA19056, HG00982, HG03166, HG04185, NA19316, HG02757, HG01797, HG01874, HG03225, NA19360, HG01948, HG01810, HG03085, HG02131, HG01600, HG02442, NA19172, HG02185, HG03391, NA18572, HG03209, HG03397, HG02285, NA20795, NA19102, HG00365, HG00559, NA18522, HG03511, HG03649, NA19005, HG02804, HG01121, NA19657, NA19713, HG02439, HG02573, NA18977, HG01281, HG01369, HG04080, HG01170, HG02558, HG01356, HG02938, NA18504, HG00478, HG01889, HG02111, HG01080, HG01351, HG03778, NA19909, NA19001, HG00524, HG03733, HG02545, HG03823, NA19091, NA18974, NA19789, NA19462, NA18940, NA20858, NA18987, NA18582, HG02281, HG01190, HG01809, NA19038, NA20756, HG02067, HG00611, HG00717, HG02182, HG00650, HG02070, NA18538, HG01673, HG03986, HG02629, NA18631, HG01303, NA18560, NA20318, HG00378, HG03198, NA18602, HG03105, NA19649, HG01945, NA20317, HG02687, HG01783, NA19063, NA19225, HG02891, NA19399, NA19717, HG02678, NA19160, HG01058, HG01808, HG01855, HG01951, NA19315, HG00566, HG03449, NA19346, HG01498, HG03557, HG03838, HG00625, HG00442, NA19350, HG02315, HG02620, NA20502, HG01857, NA20772, HG00272, NA19092, HG01869, NA19385, HG02095, NA19779, HG03460, NA18519, HG01980, HG02769, NA18629, HG03095, HG01870, HG02580, HG02666, NA19913, NA18647, HG01813, NA18861, HG01846, HG02621, HG02970, HG02398, HG03521, HG00743, NA20785, NA20506, HG01918, NA18975, NA07056, HG00675, HG03304, HG00449
Known GenesABCB1, RUNDC3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614037
Frequency
Sample Size2504
Observed Gain0
Observed Loss296
Observed Complex0
Frequencyn/a


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