A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv306e199

Internal ID20123608
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99399667..99408992hg38UCSC Ensembl
chr12:99793445..99802770hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)dgv306e199
Sample Size1151
Observed Gain0
Observed Loss205
Observed Complex0

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