A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1167e199



Internal ID20124469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162162163..162166260hg38UCSC Ensembl
chr6:162583195..162587292hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg384098
hg194098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2669542, esv2665113, esv2671500
SamplesNA19207, NA18870, NA12718, HG01440, NA19321, NA20809, HG01250, NA18933, NA11920, NA18612, NA12347, NA19093, NA20544, NA18511, NA19223, NA19455, NA19435, HG01079, NA20294, NA19430, HG01197, NA19317, HG01051, HG01365, HG00189, NA19453, NA19338, NA19782, NA19379, HG00334, HG00404, HG01461, NA19648, NA19678, HG00280, HG00366, NA19236, NA19355, HG00319, HG00737, HG00253, NA12341, NA19147, HG00188, NA19438, HG01133, HG01254, NA19428, NA18912, NA19383, NA19982, HG01384, NA18508, NA20819, NA19390, NA12155, NA19443, HG00096, NA19471, HG01048, NA19444, NA19396, HG01124, NA19397, HG00330, NA19398, NA19429, NA19440, NA19908, HG01136, HG01253, NA19316, HG00133, NA19324, NA19190, NA19213, NA19247, NA19377, HG01437, NA19395, NA19129, NA19189, NA19771, NA19372, NA18633, NA19374, HG00268, NA19393, NA19373, NA19384, NA18923, NA18486, NA19102, NA18522, NA18510, HG00232, NA20774, NA19332, NA19720, NA18910, NA19318, NA19921, NA20534, NA18909, NA19391, NA19394, NA19403, NA19116, NA18631, NA19431, NA19747, NA19434, NA19755, NA20317, NA19749, NA19399, HG01366, NA19371, NA19916, HG01108, NA19470, NA20792, HG00566, NA11829, NA19171, HG00690, NA18853, NA19079, NA19381, NA19473, HG00143, NA19448, NA19468, HG00278, NA19661, NA19456, HG00136, NA19466, NA19439
Known GenesPARK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1167e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss139
Observed Complex0
Frequencyn/a


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