A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv747e199



Internal ID22758520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172041084..172046614hg38UCSC Ensembl
chr2:172905995..172911342hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385531
hg195348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2676446, esv2669663
SamplesNA12383, NA20761, NA12717, NA12842, HG00143, HG00608, HG00142, NA20508, NA19664, NA10851, NA12273, NA20783, NA18565, NA12414, NA11920, NA11931, HG00257, HG01066, HG00315, HG00151, HG00233, NA20802, HG00244, HG00181, NA12751, NA20332, NA19684, HG01051, HG00261, NA20806, NA19107, NA12813, NA07346, HG00138, HG01350, HG00272, HG00122, NA20798, HG01351, NA19678, HG01167, HG01168, NA11918, NA18582, NA20768, HG01365, HG00334, NA20287, HG00158, NA11930, NA20759, NA12275, HG01069, HG01080, HG00148, NA12156, HG01519, NA20812, NA11932, HG00232, NA19372, HG00705, NA19722, HG00118, HG00326, NA20757, NA19789, HG00137, HG00154, NA20800, HG00266, HG01171, HG00557, NA20521, HG01095, NA20810, NA20760, HG00368, NA19717, NA19663, HG00583, HG00344, HG00263, HG00275, NA20519, HG00740, NA19654, HG01102, HG00324, HG00284, NA11893, HG00684, NA19750, NA06989, HG00146, NA12144, HG00126, NA18593, NA12546, HG01075, NA12043, HG01148, NA19003, NA20799, NA18632, HG00155, HG00254, NA19747, HG00353, HG00734, HG01357, HG01174, NA20790, NA20792, NA19679, NA19311, NA20544, HG01489, NA12347, HG00339, NA19785, NA18631, HG00259, NA19779, HG00342, NA19716, NA20510, HG00310, HG00112, NA19770, HG00280, NA11843, NA20758, NA20826, HG01125, HG00171, NA12154, NA20754, HG01437, NA20772, NA19676, NA18620, HG01060, HG01441, NA19648, HG01098, HG00249, NA11995, NA11829, NA18592, HG01359, HG01079, HG00100, HG01389, HG01374, HG01465, NA12004, HG01456, NA12058, NA20808, HG00150, NA20507, NA12400, NA12155, NA07357, NA12341, NA19068, HG01250, NA19746, NA19381, NA20796, HG01366, HG01070, NA19382, NA19762, HG00702, NA20769, NA12348, HG00736, HG00346, HG01354, NA12287, NA18611, HG00277, HG01067, HG00106, NA06984, HG01170, HG00236, HG00262, NA19719, NA18560, HG01176, NA20811, HG00637, HG00338, HG00159, NA12828, HG00178, NA12748, HG00108, HG00260, NA11831, NA10847, HG01353, HG00313, HG00188, NA19657, NA19437, HG01360, HG00183, HG00176, HG01187, NA20787, HG01384, NA12342, NA20536, HG00320, NA19776, HG01073, NA19774, NA19655, HG00373, HG01197, NA11894, NA20538, HG00321, HG00157, NA12827, NA20282, NA20828, HG00141, NA20542, NA20534, NA19675, HG01204, NA20765, NA19685, NA20801, HG00119, NA18535, NA11881, HG01190, HG00285, NA19834, NA18952, NA19749, HG00366, HG00375, HG01253, HG00136, HG00319, HG01108, NA20797, NA07037, HG00256, HG00125, NA19818, NA19376, HG00111, HG00329, NA12749, HG01254, HG01055, HG00123, HG00186, HG00131, NA19726, NA18552, HG01251, HG00372, HG00252, NA19661, NA07056, HG01378, NA19755, HG01082, NA19758, NA07000, HG00554, HG01191, HG00180, NA12776
Known GenesMETAP1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv747e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss283
Observed Complex0
Frequencyn/a


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