A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643666



Internal ID6683737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11184167..11185832hg38UCSC Ensembl
Innerchr19:11184167..11185832hg38UCSC Ensembl
Outerchr19:11184167..11185832hg38UCSC Ensembl
chr19:11294843..11296508hg19UCSC Ensembl
Innerchr19:11294843..11296508hg19UCSC Ensembl
Outerchr19:11294843..11296508hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990467, essv15990605, essv15990626, essv15990540, essv15990685, essv15990564, essv15990559, essv15990518, essv15990577, essv15990476, essv15990469, essv15990608, essv15990462, essv15990498, essv15990585, essv15990624, essv15990663, essv15990523, essv15990594, essv15990580, essv15990631, essv15990644, essv15990491, essv15990684, essv15990473, essv15990617, essv15990599, essv15990634, essv15990589, essv15990551, essv15990638, essv15990703, essv15990505, essv15990609, essv15990698, essv15990603, essv15990615, essv15990657, essv15990485, essv15990515, essv15990621, essv15990699, essv15990488, essv15990673, essv15990688, essv15990499, essv15990672, essv15990674, essv15990555, essv15990662, essv15990509, essv15990639, essv15990680, essv15990643, essv15990531, essv15990503, essv15990557, essv15990581, essv15990665, essv15990642, essv15990661, essv15990687, essv15990461, essv15990472, essv15990671, essv15990546, essv15990566, essv15990568, essv15990456, essv15990492, essv15990495, essv15990511, essv15990681, essv15990506, essv15990493, essv15990550, essv15990606, essv15990655, essv15990569, essv15990628, essv15990625, essv15990522, essv15990525, essv15990694, essv15990620, essv15990532, essv15990579, essv15990572, essv15990659, essv15990704, essv15990670, essv15990650, essv15990700, essv15990497, essv15990554, essv15990586, essv15990486, essv15990544, essv15990556, essv15990567, essv15990613, essv15990519, essv15990612, essv15990537, essv15990689, essv15990709, essv15990641, essv15990455, essv15990604, essv15990475, essv15990601, essv15990645, essv15990582, essv15990542, essv15990583, essv15990470, essv15990466, essv15990490, essv15990635, essv15990513, essv15990610, essv15990691, essv15990478, essv15990618, essv15990529, essv15990457, essv15990590, essv15990496, essv15990480, essv15990651, essv15990474, essv15990640, essv15990549, essv15990654, essv15990471, essv15990614, essv15990547, essv15990592, essv15990701, essv15990578, essv15990595, essv15990584, essv15990679, essv15990520, essv15990468, essv15990512, essv15990598, essv15990705, essv15990677, essv15990686, essv15990587, essv15990560, essv15990558, essv15990622, essv15990501, essv15990573, essv15990459, essv15990521, essv15990676, essv15990565, essv15990517, essv15990481, essv15990693, essv15990611, essv15990500, essv15990524, essv15990543, essv15990588, essv15990648, essv15990656, essv15990623, essv15990479, essv15990669, essv15990516, essv15990538, essv15990561, essv15990591, essv15990576, essv15990489, essv15990510, essv15990536, essv15990636, essv15990541, essv15990533, essv15990484, essv15990460, essv15990619, essv15990596, essv15990695, essv15990465, essv15990507, essv15990678, essv15990675, essv15990508, essv15990562, essv15990692, essv15990706, essv15990463, essv15990630, essv15990683, essv15990632, essv15990652, essv15990697, essv15990528, essv15990527, essv15990535, essv15990666, essv15990563, essv15990502, essv15990646, essv15990483, essv15990637, essv15990593, essv15990534, essv15990616, essv15990477, essv15990682, essv15990649, essv15990575, essv15990571, essv15990690, essv15990696, essv15990707, essv15990574, essv15990494, essv15990464, essv15990600, essv15990627, essv15990660, essv15990653, essv15990530, essv15990602, essv15990647, essv15990482, essv15990658, essv15990633, essv15990607, essv15990487, essv15990504, essv15990539, essv15990664, essv15990708, essv15990668, essv15990597, essv15990667, essv15990629, essv15990526, essv15990702, essv15990458, essv15990570, essv15990552, essv15990545, essv15990553, essv15990514, essv15990548
SamplesHG02580, HG02057, NA11881, HG03968, HG02107, HG03160, NA19445, NA19436, HG01770, HG01926, HG01440, HG03900, NA12748, NA18616, NA20771, HG02275, HG01603, HG02272, NA20522, HG01700, NA18528, HG01896, HG03784, HG01130, HG02298, HG01918, HG01055, HG01941, HG00145, NA07056, HG02407, NA12347, NA19093, NA19310, NA19401, HG02334, HG03055, HG01277, NA11918, HG02792, NA19003, NA06989, NA12815, HG02006, NA20881, HG01403, HG02974, HG00189, HG02014, NA19788, HG01492, HG04026, HG01082, HG01956, HG02104, HG03046, HG04229, HG01488, HG00326, HG01524, HG02105, NA19144, NA19379, HG01954, HG01188, HG00355, HG01920, HG02760, HG01101, HG00177, HG03485, HG03960, HG02323, HG03796, NA19780, HG01950, NA19776, HG01840, HG00554, HG01468, NA19762, HG01917, HG01148, NA11919, NA19982, NA19085, NA20533, HG00371, HG00250, NA19323, HG01510, HG03779, NA20764, HG00140, HG02233, HG01122, HG02292, NA19020, HG03867, NA19011, NA20530, HG04153, HG01495, NA18991, HG01785, HG01965, HG03770, HG00141, HG02643, NA18876, HG00338, NA19774, HG00178, HG00125, HG01360, HG01997, HG02220, NA11843, NA12829, HG01113, HG01527, NA19773, NA18982, NA19663, HG00276, NA19700, HG00343, HG00584, NA19728, HG03780, HG01497, NA12006, NA19676, HG03731, NA19247, HG00267, HG03085, NA19153, NA20291, HG02285, NA19024, NA12778, HG03753, HG00255, NA18486, HG01271, HG01486, HG02461, NA21107, HG03547, NA20864, HG02439, HG00099, HG00265, HG01369, HG04239, NA18749, HG01967, HG01170, HG03514, HG03619, HG01069, NA19704, NA18858, HG02111, HG03096, HG02494, HG02780, HG03788, NA20797, HG00101, HG01630, HG02502, HG03157, NA20766, HG00246, HG02307, NA19159, HG01341, HG03022, NA19318, NA20813, HG01077, HG02299, HG02395, HG02690, NA19462, HG01921, HG01991, HG02582, HG02624, HG00151, HG01162, HG01190, NA20756, HG03303, HG03589, NA18909, HG02235, NA19391, HG01939, NA06984, HG01632, HG01953, HG02604, HG03716, HG03989, NA19741, HG03925, NA19431, HG01893, HG00378, HG02262, HG02561, NA19475, NA19649, HG01945, HG03476, HG01485, HG03240, NA19327, NA21117, HG00238, NA12842, NA19655, HG00142, HG03258, NA19916, NA19070, HG02286, HG02721, NA19346, HG00119, HG01791, HG03557, NA20528, NA18853, HG03012, NA18981, HG01462, HG02813, NA20870, HG02574, HG03720, NA19468, NA21091, HG01890, NA19661, HG02095, HG00136, NA07000, NA19746, HG00327, HG00361, HG02610
Known GenesKANK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643666
Frequency
Sample Size2504
Observed Gain0
Observed Loss255
Observed Complex0
Frequencyn/a


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