A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609004



Internal ID6649237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52761463..52762081hg38UCSC Ensembl
Innerchr6:52761463..52762081hg38UCSC Ensembl
Outerchr6:52761173..52762449hg38UCSC Ensembl
chr6:52626261..52626879hg19UCSC Ensembl
Innerchr6:52626261..52626879hg19UCSC Ensembl
Outerchr6:52625971..52627247hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12351579, essv12351625, essv12351615, essv12351546, essv12351590, essv12351588, essv12351529, essv12351612, essv12351618, essv12351653, essv12351566, essv12351538, essv12351519, essv12351548, essv12351622, essv12351686, essv12351533, essv12351514, essv12351613, essv12351610, essv12351647, essv12351551, essv12351532, essv12351665, essv12351598, essv12351681, essv12351658, essv12351540, essv12351661, essv12351578, essv12351663, essv12351601, essv12351603, essv12351534, essv12351671, essv12351638, essv12351683, essv12351537, essv12351560, essv12351635, essv12351583, essv12351659, essv12351577, essv12351541, essv12351620, essv12351516, essv12351684, essv12351667, essv12351542, essv12351609, essv12351640, essv12351525, essv12351655, essv12351528, essv12351608, essv12351521, essv12351569, essv12351576, essv12351644, essv12351664, essv12351605, essv12351629, essv12351593, essv12351643, essv12351522, essv12351668, essv12351544, essv12351574, essv12351616, essv12351568, essv12351678, essv12351572, essv12351677, essv12351597, essv12351673, essv12351543, essv12351564, essv12351585, essv12351633, essv12351687, essv12351555, essv12351558, essv12351660, essv12351656, essv12351556, essv12351624, essv12351675, essv12351547, essv12351602, essv12351539, essv12351557, essv12351685, essv12351553, essv12351559, essv12351650, essv12351580, essv12351584, essv12351619, essv12351654, essv12351562, essv12351550, essv12351563, essv12351639, essv12351581, essv12351567, essv12351689, essv12351676, essv12351520, essv12351518, essv12351592, essv12351630, essv12351688, essv12351623, essv12351621, essv12351657, essv12351530, essv12351648, essv12351670, essv12351636, essv12351642, essv12351617, essv12351614, essv12351549, essv12351554, essv12351513, essv12351627, essv12351632, essv12351515, essv12351517, essv12351600, essv12351594, essv12351552, essv12351565, essv12351662, essv12351652, essv12351586, essv12351680, essv12351637, essv12351589, essv12351628, essv12351641, essv12351651, essv12351545, essv12351570, essv12351582, essv12351604, essv12351523, essv12351626, essv12351611, essv12351531, essv12351561, essv12351591, essv12351634, essv12351573, essv12351587, essv12351649, essv12351571, essv12351526, essv12351682, essv12351536, essv12351595, essv12351606, essv12351596, essv12351674, essv12351631, essv12351535, essv12351527, essv12351524, essv12351679, essv12351646, essv12351575, essv12351669, essv12351645, essv12351672, essv12351666, essv12351607, essv12351599
SamplesHG01441, HG01372, HG00734, HG01926, HG02291, NA18605, HG02272, HG01250, HG01942, NA18561, HG01941, HG01089, HG01205, HG01342, HG01944, HG01970, HG02060, NA18570, HG01935, NA20299, HG01927, NA19670, HG01197, NA19788, HG02104, NA19795, HG00428, HG01174, HG00553, HG02105, HG00739, HG01131, HG00701, HG01954, HG01188, HG01344, HG01461, HG01577, NA19678, HG01134, HG01961, NA19701, HG00737, HG02150, HG01936, NA19780, HG01348, HG01950, HG01551, HG01968, NA19761, NA19776, NA19654, HG01133, HG01435, HG01468, NA20770, HG01917, HG02259, HG01254, HG02008, NA19726, HG01982, HG02390, HG01086, HG01363, HG01384, HG01140, NA19054, HG01456, NA19735, HG01392, NA19652, NA18960, HG01938, NA18563, HG02292, HG01572, HG01395, HG01272, HG02090, HG01556, HG01360, HG01977, HG01997, HG02348, HG01113, HG01136, HG00637, NA19681, NA19663, HG01362, NA19728, NA19676, HG01443, HG01974, HG01948, HG02304, NA19786, HG01097, HG01280, NA19785, NA18747, NA19759, NA19771, HG01413, NA18572, HG02285, NA19716, HG02278, NA19731, HG01369, HG01356, HG01923, HG02266, HG01080, HG02147, HG01494, NA19720, HG02265, HG02299, NA20891, HG01149, HG01921, HG01991, HG02026, HG02374, NA18606, HG01933, HG01979, HG02345, HG01565, HG02301, NA19729, HG01393, HG01971, HG01973, HG00611, HG01345, HG01939, HG01953, HG01269, NA19741, HG01893, NA20274, NA19719, NA19755, HG02262, HG01992, NA19740, NA18946, NA19770, HG01464, NA19749, NA19717, NA19655, HG01947, HG01058, HG01366, NA19732, HG01108, HG01951, HG02271, HG02286, HG01119, HG01892, HG01462, HG01489, HG02188, NA19758, HG01932, HG01976, HG01980, HG02512, HG01354, HG01578, HG02253
Known GenesGSTA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609004
Frequency
Sample Size2504
Observed Gain0
Observed Loss177
Observed Complex0
Frequencyn/a


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