A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv714e199



Internal ID22758487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88832532..89268028hg38UCSC Ensembl
chr2:89132045..89567785hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38435497
hg19435741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666258, esv2674759, esv2674395, esv2662155, esv2657297, esv2678870, esv2676696, esv2656659, esv2661124, esv2658130, esv2670294, esv2669068
SamplesNA20588, NA18502, HG00189, NA19058, NA20529, NA18621, HG00142, NA18947, NA19399, HG00257, HG00151, NA18999, HG00233, NA20512, NA19377, NA18530, HG01461, NA19920, NA20806, NA19067, HG00337, NA19446, HG00138, NA19171, HG01350, NA19379, HG00122, NA20798, NA20589, NA20756, NA18558, NA18547, HG01492, NA18960, NA18618, NA18916, NA18574, NA18582, NA20768, HG01365, NA19384, HG00311, NA20291, NA19079, NA18949, HG00158, HG00281, HG00139, NA20759, HG00335, NA20812, NA18868, NA19172, NA18985, NA20757, HG00323, NA19985, NA18867, HG01550, NA20515, NA20755, NA19921, HG00137, NA18951, NA18605, NA20535, NA20800, NA18538, NA19070, NA19056, NA20521, NA20810, NA20760, HG00344, NA19081, HG01498, NA20519, NA18572, NA18948, NA18981, NA18548, NA18907, NA19084, HG00331, NA18532, NA19059, HG01334, NA19009, NA19452, NA18523, NA19318, NA19395, HG00126, NA19625, NA18593, NA19440, HG00336, NA19256, NA19712, NA18564, NA18628, NA19444, NA19331, NA20520, NA19010, NA19470, NA19428, HG00116, NA18943, NA20281, NA18615, HG01342, NA19328, NA18631, NA19223, HG00267, NA18609, NA19102, NA18873, HG00112, NA20826, HG00377, HG00274, NA20503, NA18989, NA19129, NA18624, NA19065, NA18612, NA19074, NA18487, HG01437, NA19431, NA18577, HG00096, HG01441, NA19700, NA19055, NA19397, NA18924, NA18592, HG01359, NA18980, HG00100, NA18561, NA19704, NA18507, NA18599, HG01389, HG01374, HG00306, NA20813, NA18603, NA19819, NA20808, NA20346, NA20507, NA19190, NA18526, NA19068, HG01250, NA19076, NA18550, HG00251, NA18489, NA18595, HG00173, HG00330, NA20769, NA18942, HG01354, NA20540, NA19313, NA19054, NA18498, NA20513, NA20336, HG01134, HG00277, HG00120, HG00106, HG00262, NA20340, NA18560, NA18617, NA19159, NA19002, NA19189, NA18520, HG00338, NA19209, HG00178, NA18973, NA19451, NA18638, HG00108, NA19007, HG01136, HG00188, HG00149, NA19247, HG01360, HG00183, HG00176, NA19082, NA19707, NA20787, NA20524, HG01384, NA19077, NA19347, NA20809, NA20536, NA19391, NA19327, NA19982, NA18976, NA20770, NA20344, NA19000, HG00373, HG01383, NA18853, NA20282, NA20828, NA18536, NA20542, NA20526, NA20296, NA19401, NA20801, HG00119, NA18535, NA19834, NA19108, NA18952, NA18543, NA18559, NA18950, HG00375, HG01253, HG00136, NA20504, HG00319, NA20803, HG00256, HG00125, NA19818, NA19376, NA19078, HG00312, NA20582, NA19472, HG00329, NA18987, NA19713, HG00174, NA20807, NA18972, HG00343, NA18552, HG00372, HG00252, HG01377, NA18984, NA18505, NA19004, NA20322, HG00345, NA18549, NA19153, NA19701, NA20761, HG00143, NA19703, HG01462, NA20766, NA19066, HG00242, NA19204, NA18861, NA18508, NA18565, NA20514, HG00315, NA20816, NA20752, NA20802, HG00244, NA19350, HG00181, NA19359, NA20294, NA19355, NA20332, NA18959, NA18616, NA19443, NA20356, HG00261, NA20771, NA18510, NA18988, NA18627, HG00271, NA20814, NA18563, NA18940, NA18519, HG00272, NA19319, NA18597, HG01351, NA18923, NA18567, NA19062, HG00334, NA20287, HG00185, NA19904, NA20539, NA20518, HG00148, HG00156, HG00325, HG00232, NA19372, NA19235, NA19207, HG00160, HG00118, NA18990, NA18557, NA20342, NA20127, HG00253, NA18539, NA20753, HG01124, NA19908, HG00268, HG00282, HG00245, HG00368, NA20314, HG00263, HG00275, NA18579, NA18871, HG01149, NA18534, HG00239, NA20525, HG00324, HG00284, NA18573, NA19461, HG00250, NA18626, NA18912, HG00140, NA18553, HG01497, NA19099, NA18555, HG00152, HG00146, NA19469, HG00246, NA18858, NA18541, NA18953, NA19003, NA18632, HG00155, HG00254, HG00265, NA20276, HG00353, NA20815, NA19072, HG01551, NA20790, NA20530, NA20527, NA19835, NA20778, HG00237, NA19311, HG01113, NA20544, HG01137, NA18610, HG01489, HG00339, NA18501, HG00259, HG00342, NA19468, NA19474, NA19093, NA20510, NA18636, NA20289, HG00280, NA20758, NA19116, NA19711, NA18983, NA20502, NA19430, NA19316, NA19312, HG01125, HG00171, NA19463, NA20585, NA19063, NA19346, HG01356, HG00231, HG00249, NA19914, HG00187, NA19332, NA18917, HG00367, HG00318, NA18486, HG00103, NA18545, NA19393, NA20805, NA18596, HG01456, NA18606, HG00179, HG00177, NA18870, HG01140, NA19374, NA19396, HG00127, NA19381, NA20796, NA19005, NA18944, HG01366, NA19382, NA19448, HG01488, NA20586, NA19119, NA18982, NA20317, HG00346, NA19088, HG00270, NA18964, NA18611, NA19404, HG01455, NA19383, NA18874, NA20819, HG01495, NA19917, NA19137, NA19385, NA19317, NA18986, HG01440, HG00309, NA20811, HG00159, NA19456, NA19445, NA18975, HG00264, HG00260, NA18614, HG01353, HG00313, HG00133, NA18544, NA19437, NA18934, NA20505, NA19152, HG00190, NA18956, NA19236, NA18516, HG00320, NA18637, NA20506, NA20126, NA18630, HG01390, NA18566, HG00273, NA19114, NA20299, NA19449, NA18856, HG00117, HG00321, HG00157, NA19257, HG00276, NA18634, NA18945, NA19436, NA20765, NA18546, NA18608, HG00124, NA20773, NA20522, NA18542, NA18909, HG00285, NA19321, NA18961, HG00366, NA19435, NA18941, NA20804, HG00278, NA19380, NA19144, NA20785, NA19334, HG01494, NA19439, NA19467, NA20516, NA20797, NA19085, HG00269, NA19398, HG00111, NA20348, NA18971, HG01491, NA19060, HG01254, HG00123, HG00131, NA19213, HG01251, HG01378, NA18511, NA18522, HG01112, HG00180, NA18622, NA18562, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv714e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss559
Observed Complex0
Frequencyn/a


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