A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv140e199



Internal ID20123442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52255853..52258532hg38UCSC Ensembl
chr10:54015613..54018292hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382680
hg192680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2664434, esv2659556
SamplesHG01357, HG01441, NA11881, NA12154, HG00537, NA07347, HG00257, HG00182, HG00619, HG01353, NA18530, HG00418, HG01072, NA12286, HG00100, HG00328, HG00705, HG00437, HG01173, HG00171, HG01083, HG00274, HG00186, HG00464, HG00596, NA12347, NA19783, HG00736, HG00160, HG00449, HG00310, NA19003, NA06989, NA10847, NA18603, HG01389, NA11931, HG00117, HG00189, NA19788, HG01082, HG00375, HG01174, HG00368, HG00173, HG01491, HG00148, HG01350, HG00139, NA18546, HG00111, HG00334, HG00581, NA12776, NA19685, HG00187, HG01461, NA19648, NA19651, HG00280, HG00335, HG01101, HG00578, HG00177, HG00737, HG00253, HG00699, NA12341, NA12287, NA19761, HG00188, NA19776, HG00479, NA18628, NA18868, NA19654, HG00247, HG00256, HG00266, HG00635, NA12414, NA19762, HG00115, HG00543, HG01254, HG01107, NA18559, HG00321, HG00339, NA19463, HG00158, HG00556, HG01148, NA12763, NA12843, HG01384, HG00250, NA19054, HG01456, NA12282, HG01375, NA19652, HG00583, NA12004, HG00337, HG01378, NA19660, NA19675, HG00140, NA12155, HG00259, HG01048, NA19722, HG00610, HG01061, HG01183, NA19396, HG01124, HG00628, NA19397, HG00315, HG00330, NA12761, HG00149, HG00150, HG00533, HG00258, HG01360, NA11831, NA12829, HG01136, NA18637, HG01253, NA11995, NA19773, HG00634, NA19681, HG00243, HG00254, NA19679, HG00276, HG00284, HG01187, HG00343, NA19082, HG00662, NA12751, NA19000, NA19676, HG00306, HG00373, HG00436, HG00267, HG00620, HG01437, HG00124, NA07346, NA12046, NA19785, NA12716, HG01465, NA19759, HG00233, HG00653, NA19703, HG00268, NA19375, HG00732, HG00629, NA12348, HG00185, NA20753, HG01455, HG00176, NA19657, NA19731, NA19664, HG00282, HG01069, HG01176, HG01356, NA19704, NA20814, NA20818, NA11892, HG00116, HG01351, HG00740, HG00513, HG01494, NA19720, HG00329, NA19707, NA12283, HG01060, HG01383, NA19789, HG00236, HG01149, NA18606, HG00120, NA19235, NA12890, NA20581, HG01137, HG00595, NA19729, NA12272, HG01095, HG00443, HG00181, NA19391, NA19723, HG00611, HG01334, NA06984, NA12889, NA18631, HG01112, HG00311, HG00448, NA19755, NA20509, HG00530, NA11830, NA19749, NA11993, NA12399, HG00656, HG01366, NA19371, HG00708, HG01251, NA19070, HG00693, HG00566, HG01125, NA19756, HG00251, HG00119, HG00275, HG00324, HG01374, HG00137, HG01102, HG01462, HG01489, NA19079, HG00626, NA18615, HG00143, NA19758, HG00336, HG00476, HG00272, HG00702, HG00278, NA19007, NA19661, HG00136, NA19065, HG00126, NA07000, NA12775, NA19746, HG01354, HG00361, HG01198, HG00323, NA12827, HG00313, NA12043, NA19445, NA19625, HG00152, NA12249, NA12750, NA12748
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv140e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss278
Observed Complex0
Frequencyn/a


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