A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1170e199



Internal ID22758943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166585488..166586678hg38UCSC Ensembl
chr6:166998976..167000166hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381191
hg191191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662802, esv2658595
SamplesNA18502, NA19701, NA19700, NA19703, NA19397, NA19909, NA19466, NA19204, NA18861, NA18508, NA19399, HG01052, NA19332, NA19704, NA18507, HG00640, NA19350, NA19359, NA19092, NA18486, NA20332, NA19377, NA20346, NA19443, NA18870, NA19920, NA18510, NA19107, NA19446, NA19396, NA19381, NA19171, NA19379, NA18519, HG01070, NA19319, NA19201, NA19382, NA19315, NA18489, NA19448, NA19119, NA19198, NA20317, NA19916, NA19131, NA18916, NA19313, NA20287, NA19384, NA20291, NA19130, NA19404, HG01067, NA19383, NA18868, NA19137, NA19371, NA19238, NA19235, NA19385, NA19172, NA19471, NA19317, NA19901, NA19189, NA19239, HG01048, NA20342, NA19209, NA19456, NA19445, NA20127, NA18908, NA18867, NA19921, NA19451, NA19200, NA11993, NA19247, NA19210, NA19657, NA19437, HG01171, NA19403, NA19462, NA19347, NA18933, NA19391, NA19327, NA19717, NA19455, NA19236, NA18516, NA19982, NA20126, NA18910, NA18871, NA18981, NA18907, NA19114, NA19449, NA11894, NA18856, HG01101, NA18853, NA19099, NA19338, NA19257, NA19452, NA19225, NA18523, NA19469, NA19160, NA19395, NA19625, NA18858, NA18945, NA19436, NA19401, NA19375, NA19652, NA19440, NA19390, NA18909, HG01190, NA19834, NA19321, NA19108, NA19256, NA19147, NA19712, NA19434, HG01551, NA19435, NA19444, NA19331, NA19240, NA19380, NA19334, NA19470, NA19428, NA19467, NA19360, HG01342, NA19818, NA19376, NA19398, NA19328, NA20348, NA19248, NA19472, NA19223, NA19468, NA19474, NA19093, NA19102, NA18873, NA19116, NA19711, NA19213, NA19430, NA18505, NA19129, NA18488, NA19312, HG01125, NA18511, NA18522, NA19429, NA19346, NA18487, NA19153
Known GenesRPS6KA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1170e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss173
Observed Complex0
Frequencyn/a


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