A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586231



Internal ID6626544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62157230..62158631hg38UCSC Ensembl
Innerchr1:62157259..62158603hg38UCSC Ensembl
Outerchr1:62157202..62158660hg38UCSC Ensembl
chr1:62622902..62624303hg19UCSC Ensembl
Innerchr1:62622931..62624275hg19UCSC Ensembl
Outerchr1:62622874..62624332hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9949474, essv9949691, essv9949708, essv9949700, essv9949715, essv9949664, essv9949597, essv9949607, essv9949637, essv9949416, essv9949464, essv9949455, essv9949764, essv9949582, essv9949650, essv9949734, essv9949759, essv9949770, essv9949631, essv9949711, essv9949451, essv9949762, essv9949475, essv9949438, essv9949726, essv9949580, essv9949740, essv9949419, essv9949465, essv9949510, essv9949626, essv9949687, essv9949753, essv9949767, essv9949472, essv9949415, essv9949593, essv9949636, essv9949559, essv9949641, essv9949503, essv9949511, essv9949577, essv9949660, essv9949435, essv9949417, essv9949684, essv9949418, essv9949560, essv9949446, essv9949758, essv9949615, essv9949716, essv9949502, essv9949497, essv9949569, essv9949603, essv9949737, essv9949689, essv9949460, essv9949741, essv9949611, essv9949669, essv9949441, essv9949677, essv9949458, essv9949523, essv9949605, essv9949531, essv9949547, essv9949747, essv9949622, essv9949736, essv9949589, essv9949436, essv9949739, essv9949769, essv9949659, essv9949494, essv9949567, essv9949549, essv9949568, essv9949614, essv9949676, essv9949621, essv9949760, essv9949680, essv9949525, essv9949571, essv9949491, essv9949596, essv9949566, essv9949573, essv9949652, essv9949771, essv9949661, essv9949731, essv9949459, essv9949468, essv9949658, essv9949600, essv9949551, essv9949766, essv9949445, essv9949456, essv9949668, essv9949466, essv9949639, essv9949694, essv9949743, essv9949478, essv9949601, essv9949635, essv9949757, essv9949528, essv9949548, essv9949482, essv9949710, essv9949671, essv9949504, essv9949714, essv9949463, essv9949625, essv9949624, essv9949703, essv9949555, essv9949663, essv9949421, essv9949562, essv9949633, essv9949647, essv9949534, essv9949570, essv9949585, essv9949628, essv9949675, essv9949612, essv9949742, essv9949565, essv9949609, essv9949690, essv9949718, essv9949505, essv9949725, essv9949592, essv9949752, essv9949697, essv9949431, essv9949498, essv9949453, essv9949439, essv9949572, essv9949630, essv9949720, essv9949428, essv9949702, essv9949583, essv9949496, essv9949574, essv9949542, essv9949738, essv9949686, essv9949696, essv9949432, essv9949645, essv9949719, essv9949665, essv9949479, essv9949492, essv9949522, essv9949588, essv9949514, essv9949651, essv9949485, essv9949521, essv9949530, essv9949517, essv9949744, essv9949443, essv9949413, essv9949426, essv9949519, essv9949437, essv9949480, essv9949576, essv9949618, essv9949512, essv9949587, essv9949667, essv9949608, essv9949627, essv9949755, essv9949579, essv9949642, essv9949707, essv9949732, essv9949507, essv9949515, essv9949602, essv9949705, essv9949524, essv9949422, essv9949477, essv9949444, essv9949623, essv9949484, essv9949546, essv9949685, essv9949653, essv9949595, essv9949666, essv9949730, essv9949520, essv9949526, essv9949604, essv9949536, essv9949584, essv9949657, essv9949467, essv9949499, essv9949527, essv9949556, essv9949656, essv9949424, essv9949557, essv9949729, essv9949649, essv9949654, essv9949713, essv9949493, essv9949578, essv9949632, essv9949745, essv9949564, essv9949506, essv9949699, essv9949756, essv9949454, essv9949518, essv9949533, essv9949681, essv9949495, essv9949561, essv9949442, essv9949452, essv9949695, essv9949447, essv9949722, essv9949509, essv9949550, essv9949617, essv9949414, essv9949610, essv9949412, essv9949420, essv9949450, essv9949544, essv9949606, essv9949483, essv9949619, essv9949640, essv9949672, essv9949581, essv9949594, essv9949655, essv9949679, essv9949448, essv9949613, essv9949662, essv9949698, essv9949721, essv9949508, essv9949545, essv9949590, essv9949591, essv9949746, essv9949427, essv9949670, essv9949701, essv9949723, essv9949728, essv9949704, essv9949748, essv9949470, essv9949501, essv9949634, essv9949724, essv9949540, essv9949629, essv9949500, essv9949678, essv9949688, essv9949434, essv9949487, essv9949552, essv9949706, essv9949429, essv9949772, essv9949683, essv9949461, essv9949457, essv9949513, essv9949430, essv9949539, essv9949673, essv9949575, essv9949693, essv9949425, essv9949598, essv9949735, essv9949750, essv9949648, essv9949674, essv9949586, essv9949554, essv9949532, essv9949644, essv9949449, essv9949761, essv9949692, essv9949717, essv9949749, essv9949440, essv9949558, essv9949754, essv9949763, essv9949535, essv9949768, essv9949529, essv9949709, essv9949486, essv9949751, essv9949616, essv9949411, essv9949599, essv9949646, essv9949765, essv9949541, essv9949733, essv9949489, essv9949563, essv9949538, essv9949473, essv9949490, essv9949462, essv9949643, essv9949543, essv9949727, essv9949471, essv9949682, essv9949553, essv9949481, essv9949516, essv9949423, essv9949476, essv9949469, essv9949537, essv9949638, essv9949433, essv9949488, essv9949712, essv9949620
SamplesHG01607, HG01357, HG01441, HG03755, NA19248, HG02657, HG01440, HG03705, HG03900, HG03760, HG02275, NA19734, HG01530, HG03784, NA21113, HG02597, HG03631, HG03940, NA12342, HG01988, HG03744, HG02661, HG01173, HG03856, HG01444, HG03741, HG01885, HG01970, NA20531, NA11918, NA20888, NA12815, HG01079, HG01927, NA10847, NA20759, HG01325, HG01365, HG01615, HG02104, NA19795, NA21124, HG01915, NA20889, HG03642, HG03746, NA21104, NA20539, HG02660, NA20897, HG00111, HG00355, HG01920, NA19651, HG03967, NA20763, HG00280, HG01101, HG04214, HG00177, NA20798, HG03949, HG01936, HG04140, NA20521, NA20803, NA20853, HG01682, HG03836, HG02312, HG02775, NA12763, HG01384, NA20849, HG04188, NA19735, HG01375, HG01392, HG00583, HG01618, NA21097, HG00349, NA20764, HG01305, HG03953, HG01938, HG02233, NA19900, NA19722, NA19792, HG03867, HG03774, HG03899, NA20783, HG01183, HG03717, HG01965, HG03770, HG03862, HG00315, HG00330, HG03727, HG01396, NA11933, HG00150, HG01556, NA19774, NA20882, NA21119, HG00125, HG01977, NA11831, HG04099, HG04042, HG04222, NA19773, NA19658, NA19663, HG01247, NA20589, NA12144, HG03848, HG04185, NA20847, HG03742, NA19728, NA21115, NA20769, NA21099, HG00373, HG01443, HG02603, HG04059, HG01974, HG03731, HG01437, NA19786, HG01280, NA19785, HG01465, NA19771, HG00233, HG03998, HG04141, HG01516, HG01191, HG01066, NA20126, NA20760, HG02285, NA20512, NA12778, HG03753, NA19716, HG01766, NA20795, NA20826, HG02278, HG01455, NA21112, HG02786, HG03754, HG00260, HG01121, NA19657, NA19731, HG01073, HG01670, HG04062, HG03873, HG01676, HG02787, HG01923, HG02266, HG00103, HG02780, HG03788, NA19332, HG00740, HG02147, NA20797, HG03733, HG00329, HG04093, HG01060, HG01702, NA21095, HG03738, NA20813, HG03945, HG01077, HG02690, HG03767, NA20891, HG01880, NA19777, HG01979, HG02345, NA20858, NA21103, HG00151, HG01565, HG02219, NA21101, HG01137, HG01190, NA19729, NA20534, NA21126, HG04033, HG03589, NA19723, HG01334, HG03009, HG03629, NA12749, NA20827, HG01939, HG02238, NA06984, HG01953, HG03866, NA19764, HG01269, HG02688, HG03694, HG03990, NA20850, HG02604, HG03716, HG01256, HG02230, HG01893, NA19719, NA19747, NA20318, NA20509, HG03905, NA19649, NA21086, HG02252, HG01945, NA20317, NA19770, NA20810, HG02489, NA19749, HG03890, HG04039, NA19717, NA20812, HG01366, HG02089, HG01951, NA19752, NA12045, HG01119, HG01177, HG03838, NA20904, HG01892, HG00641, NA21105, HG01102, HG01489, HG02620, HG01377, NA20502, HG00345, NA21091, NA19750, HG00278, HG03490, NA19779, HG01602, HG01710, HG03991, HG02215, HG02774, HG01980, NA07000, HG01578, HG02253, HG03937, HG02691, HG01372, HG01613, HG01515, HG01459, HG00734, HG01518, HG03698, HG04146, NA21142, NA12748, HG01675, NA21125, NA20522, HG01700, NA20809, HG01250, NA20503, HG01438, HG04003, HG02697, NA20866, HG01075, HG03977, NA20506, HG01918, HG01205, HG01944, HG00261, HG01054, HG01098, HG04014, NA06989, HG03643, NA20775, HG03969, HG01492, HG01956, HG01685, HG02002, HG01432, HG01491, HG01524, HG00553, HG01680, HG02231, HG03680, HG03585, HG01204, HG01461, HG01577, HG03750, NA19648, HG03765, HG01571, HG01961, NA20895, NA21129, HG03488, HG01348, HG01950, HG01133, HG01784, HG01435, NA20770, HG02003, NA19762, HG03690, NA20761, NA20585, HG01086, HG04210, NA20533, NA20885, HG03910, HG03672, NA20515, HG02696
Known GenesINADL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586231
Frequency
Sample Size2504
Observed Gain0
Observed Loss362
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer