A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv306e199



Internal ID18982360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99399667..99408992hg38UCSC Ensembl
chr12:99793445..99802770hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg389326
hg199326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2658636, esv2663054, esv2668940, esv2678804
SamplesHG00380, NA18870, NA19248, HG00313, NA19445, NA18861, HG00318, HG01440, NA19712, HG00257, NA19321, NA20527, HG00344, NA18871, HG01052, HG01075, HG00551, NA19404, HG00127, NA19437, NA18874, HG01342, HG00369, NA19209, NA18501, HG00131, NA20544, NA19311, NA20531, NA20346, HG00310, HG00261, NA19223, HG01098, NA06989, NA20299, HG01079, HG01389, NA20775, NA20759, HG01197, NA11931, NA18516, NA19334, HG01174, HG00326, NA19920, HG00553, NA19461, NA19210, NA19379, HG00106, NA12058, NA19834, NA20588, HG01188, NA20805, NA12776, HG00187, NA07051, NA19648, HG01134, NA19257, NA19108, HG00177, NA19355, NA19474, HG00737, NA19467, HG01551, HG01171, HG00353, HG00342, NA20532, HG00154, HG01107, NA19428, NA20505, NA20585, HG00242, NA18912, NA19982, NA12843, NA18934, HG01456, NA20515, HG01375, NA19652, NA12004, HG00337, NA19917, NA20811, HG00180, HG00259, NA19443, NA19471, NA20504, HG01048, NA20530, NA20783, HG00372, NA19396, NA20754, NA18856, NA19908, HG00149, HG00125, HG01360, NA20282, HG01253, NA19773, HG00174, NA19658, HG00637, NA19679, NA12777, HG00357, NA12144, HG00133, NA19324, NA19190, NA19213, HG00124, HG00108, NA12892, NA19372, NA20536, NA20760, NA12778, NA18498, HG00185, NA18486, HG00263, HG01455, NA18502, NA19119, HG01073, HG00239, HG00282, HG00232, HG01069, HG01176, NA18487, NA18858, NA19347, HG00103, HG01351, NA19332, NA20542, NA19707, NA12283, NA19131, NA19159, HG01060, NA18910, HG00377, NA19462, NA19235, NA12891, NA20581, NA19138, NA19376, HG00181, NA12749, NA06984, NA19394, HG00138, NA19431, NA20287, NA19755, NA19446, NA12878, NA19452, NA19749, HG00281, HG00285, NA12399, HG00142, NA18924, NA19371, NA20758, NA19470, NA19315, NA20792, HG01125, NA19130, HG01498, NA20528, HG00641, NA19204, HG01374, HG01522, HG01489, NA18908, NA19473, NA20804, HG00143, NA20538, NA19200, NA19750, HG00278, NA19661, NA20519, NA18519, HG01354
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv306e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss205
Observed Complex0
Frequencyn/a


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