A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647412



Internal ID7034153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23683397..23685350hg38UCSC Ensembl
Innerchr22:23683398..23685349hg38UCSC Ensembl
Outerchr22:23683396..23685351hg38UCSC Ensembl
chr22:24025584..24027537hg19UCSC Ensembl
Innerchr22:24025585..24027536hg19UCSC Ensembl
Outerchr22:24025583..24027538hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381954
hg191954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16386333, essv16386584, essv16386323, essv16386373, essv16386395, essv16386646, essv16386391, essv16386426, essv16386587, essv16386594, essv16386623, essv16386612, essv16386527, essv16386522, essv16386565, essv16386515, essv16386372, essv16386603, essv16386516, essv16386482, essv16386393, essv16386478, essv16386430, essv16386536, essv16386408, essv16386311, essv16386525, essv16386465, essv16386647, essv16386631, essv16386448, essv16386513, essv16386598, essv16386589, essv16386614, essv16386417, essv16386434, essv16386330, essv16386658, essv16386652, essv16386533, essv16386523, essv16386334, essv16386493, essv16386456, essv16386404, essv16386560, essv16386673, essv16386320, essv16386428, essv16386443, essv16386475, essv16386450, essv16386576, essv16386625, essv16386467, essv16386367, essv16386621, essv16386553, essv16386447, essv16386644, essv16386383, essv16386423, essv16386343, essv16386407, essv16386595, essv16386580, essv16386541, essv16386666, essv16386502, essv16386380, essv16386337, essv16386554, essv16386671, essv16386381, essv16386399, essv16386626, essv16386365, essv16386545, essv16386485, essv16386382, essv16386517, essv16386385, essv16386667, essv16386499, essv16386359, essv16386611, essv16386435, essv16386484, essv16386556, essv16386654, essv16386394, essv16386476, essv16386643, essv16386539, essv16386633, essv16386464, essv16386639, essv16386458, essv16386564, essv16386511, essv16386466, essv16386650, essv16386457, essv16386356, essv16386338, essv16386606, essv16386368, essv16386636, essv16386494, essv16386354, essv16386397, essv16386418, essv16386433, essv16386537, essv16386568, essv16386653, essv16386535, essv16386440, essv16386370, essv16386455, essv16386425, essv16386345, essv16386497, essv16386572, essv16386591, essv16386486, essv16386326, essv16386627, essv16386640, essv16386341, essv16386336, essv16386492, essv16386411, essv16386512, essv16386392, essv16386405, essv16386656, essv16386610, essv16386481, essv16386331, essv16386314, essv16386445, essv16386518, essv16386622, essv16386348, essv16386630, essv16386624, essv16386369, essv16386377, essv16386532, essv16386619, essv16386665, essv16386387, essv16386573, essv16386410, essv16386555, essv16386585, essv16386389, essv16386638, essv16386366, essv16386524, essv16386437, essv16386544, essv16386504, essv16386605, essv16386538, essv16386412, essv16386649, essv16386414, essv16386347, essv16386570, essv16386534, essv16386317, essv16386655, essv16386672, essv16386498, essv16386615, essv16386575, essv16386439, essv16386324, essv16386579, essv16386350, essv16386375, essv16386590, essv16386581, essv16386321, essv16386332, essv16386586, essv16386406, essv16386569, essv16386495, essv16386501, essv16386388, essv16386319, essv16386315, essv16386530, essv16386432, essv16386313, essv16386563, essv16386629, essv16386358, essv16386360, essv16386637, essv16386371, essv16386613, essv16386509, essv16386660, essv16386674, essv16386362, essv16386543, essv16386567, essv16386596, essv16386325, essv16386312, essv16386374, essv16386452, essv16386602, essv16386608, essv16386403, essv16386588, essv16386500, essv16386617, essv16386474, essv16386592, essv16386487, essv16386427, essv16386520, essv16386558, essv16386651, essv16386616, essv16386557, essv16386601, essv16386322, essv16386648, essv16386329, essv16386477, essv16386577, essv16386364, essv16386618, essv16386664, essv16386503, essv16386472, essv16386529, essv16386491, essv16386514, essv16386419, essv16386635, essv16386473, essv16386489, essv16386470, essv16386453, essv16386548, essv16386597, essv16386316, essv16386318, essv16386551, essv16386378, essv16386420, essv16386351, essv16386628, essv16386549, essv16386488, essv16386422, essv16386342, essv16386659, essv16386459, essv16386460, essv16386390, essv16386416, essv16386571, essv16386663, essv16386449, essv16386401, essv16386436, essv16386607, essv16386669, essv16386327, essv16386353, essv16386357, essv16386547, essv16386415, essv16386346, essv16386546, essv16386641, essv16386441, essv16386344, essv16386583, essv16386352, essv16386483, essv16386670, essv16386402, essv16386469, essv16386328, essv16386526, essv16386335, essv16386379, essv16386593, essv16386409, essv16386559, essv16386642, essv16386413, essv16386479, essv16386668, essv16386480, essv16386496, essv16386582, essv16386550, essv16386574, essv16386507, essv16386505, essv16386521, essv16386604, essv16386540, essv16386609, essv16386657, essv16386661, essv16386508, essv16386461, essv16386400, essv16386421, essv16386454, essv16386468, essv16386462, essv16386429, essv16386506, essv16386566, essv16386490, essv16386376, essv16386463, essv16386561, essv16386632, essv16386634, essv16386340, essv16386620, essv16386384, essv16386578, essv16386519, essv16386600, essv16386599, essv16386542, essv16386442, essv16386424, essv16386562, essv16386662, essv16386446, essv16386444, essv16386471, essv16386451, essv16386531, essv16386552, essv16386528, essv16386510, essv16386645, essv16386361, essv16386438, essv16386386, essv16386396, essv16386339, essv16386355, essv16386431, essv16386349, essv16386363, essv16386398
SamplesHG01747, NA20511, HG01608, NA20588, NA19394, NA12383, NA18502, NA19028, HG01173, NA19058, HG02496, NA20529, HG03484, HG01624, NA20508, NA19664, HG01610, HG00671, NA21127, NA10851, NA20783, HG02122, NA11931, HG03241, HG02419, HG01066, HG00315, HG00151, NA20752, NA18999, NA18528, HG00181, HG02804, HG03298, NA20294, NA19355, HG03295, HG03126, HG02215, NA21128, HG01051, HG00261, HG00097, NA20771, NA12750, NA20894, HG03782, NA20814, HG01873, HG03603, HG00138, HG01506, HG00356, NA19379, HG00122, NA19315, HG01702, HG01177, NA19678, HG01676, HG01167, HG02840, HG01766, NA20756, HG00238, HG03913, HG01492, NA07048, NA07347, NA19457, HG01372, HG00451, HG00185, NA19130, NA18949, NA11930, HG00281, HG00139, NA20539, HG03887, NA12275, HG04183, HG02561, HG01080, NA20518, NA20278, NA20775, NA12156, NA18748, NA20412, HG00160, HG01198, HG01133, HG01275, HG00326, HG00253, NA20318, HG01256, HG00743, HG02479, HG01164, HG02716, HG02442, NA20535, NA12489, HG00731, NA20800, HG03685, HG01501, HG01122, HG01670, HG02380, HG02449, HG01879, NA19043, HG00132, HG00263, NA12718, NA20832, HG03027, HG01630, NA20525, HG03472, HG03301, HG02429, HG01762, HG00250, NA21086, HG01536, NA12829, NA19750, HG03631, HG03446, HG01130, NA19752, HG01474, NA18963, NA12144, HG01680, HG01697, HG00246, NA19395, HG04118, HG02896, HG00126, NA12546, HG01107, HG00376, NA19375, NA19309, HG02557, HG00265, NA19256, NA18517, HG03437, NA19712, HG01678, HG02220, NA12272, HG01551, HG01396, HG01174, NA20790, NA20530, HG01375, NA20778, HG01137, HG00339, HG01785, NA06994, HG03157, HG03977, NA19779, NA19351, HG03279, NA20510, NA20786, NA11843, HG01468, NA18983, HG01914, HG01794, HG00105, NA19030, HG01111, HG02805, NA20585, NA12154, NA18612, HG03303, HG01776, HG01618, HG00255, NA20772, NA20762, HG00096, HG03773, HG00235, NA19141, NA19700, HG02652, HG01521, NA20543, NA19794, HG01303, HG01438, NA19466, NA11829, HG00361, HG01359, HG02973, NA19704, NA20531, HG01970, HG00306, HG02891, HG00640, HG01305, HG03100, HG01632, NA18870, NA12400, HG02895, NA07357, HG01140, NA12413, NA12341, HG00327, HG01500, NA12812, HG00109, NA19201, NA19448, HG01064, HG01488, NA19198, HG03765, NA20317, HG00330, NA20769, NA12348, HG01710, NA12283, NA20540, HG00369, HG01510, NA20513, NA19782, HG01668, HG01393, NA20541, NA19922, NA19404, NA12761, HG03897, HG01398, HG01067, HG00379, HG02490, HG02573, HG01628, HG00262, NA19719, HG01072, HG01281, HG01308, NA19471, NA12889, NA12815, HG00309, NA19026, HG02502, HG00338, NA19445, NA18908, HG01605, HG03048, HG00739, HG00108, HG01942, NA20818, NA10847, HG00133, HG01139, HG00149, NA20854, HG02977, HG01248, NA20524, HG02236, HG01790, HG01344, HG01271, NA18956, HG01162, HG02511, HG01612, HG02450, HG02953, HG01989, HG01119, HG02221, HG01049, HG02555, HG01447, HG01392, HG01311, HG01073, HG01619, HG01414, HG03476, HG01383, HG01182, NA19001, HG00117, HG00157, NA19740, HG03745, HG02585, HG01708, HG01679, NA20828, NA20542, NA20534, HG01990, NA20296, NA21087, NA19206, NA12716, HG01190, HG00285, HG02223, HG02501, HG02696, HG02064, NA19435, NA07051, NA20785, HG01494, HG01205, NA20504, NA19310, HG01933, NA20803, NA07037, HG01991, HG01801, NA20357, NA19759, HG01606, HG01770, HG01432, HG02230, HG02699, NA20334, HG01055, HG01085, HG00174, NA21101, NA20807, HG01377, HG01775, NA18522, HG01097
Known GenesGUSBP11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647412
Frequency
Sample Size2504
Observed Gain0
Observed Loss364
Observed Complex0
Frequencyn/a


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