A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv837e199



Internal ID20124139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44739371..44741656hg38UCSC Ensembl
chr22:45135251..45137536hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382286
hg192286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2676588, esv2666968
SamplesHG01173, NA19703, NA19055, NA18924, HG00671, NA19066, NA18861, HG01359, HG00559, NA19914, NA18565, HG01066, NA19092, NA18486, HG01465, NA18545, NA19819, NA18596, NA18504, HG00566, NA19190, NA19098, HG01051, NA19068, HG00641, NA19171, NA19076, NA19382, NA18489, NA20589, NA19728, NA19678, NA18923, NA18635, NA19198, NA18619, NA18558, NA19062, HG01083, HG00270, NA18498, NA19384, NA20291, NA19130, NA19079, HG00590, NA19404, HG01069, HG00683, HG00236, NA18868, HG01072, NA19235, NA18617, NA19172, NA19317, NA12889, NA19159, HG00427, NA19189, NA18520, HG00637, HG00159, NA19209, NA18867, NA19200, HG00464, HG01124, NA18605, NA19247, NA18613, HG01187, NA18934, NA19077, NA19347, NA19152, NA18933, HG00732, HG01095, HG00475, NA19663, NA19236, NA18516, NA18637, NA19788, NA18910, NA18871, NA18630, NA20344, NA19654, NA19461, NA19114, NA19000, NA19449, HG01197, NA18499, NA18856, NA18912, HG01101, NA19099, NA19257, NA19009, NA19452, HG00704, NA19682, NA19225, NA18523, HG00463, NA19469, NA19160, NA18536, NA18858, HG01107, NA19012, NA19401, NA19375, NA19390, NA18909, NA19834, NA19321, NA19712, NA19434, NA19749, NA19747, NA19473, NA18628, NA18950, HG00580, HG00734, NA19444, NA19380, NA19144, NA19010, HG00473, HG01108, HG00418, NA19085, NA18615, HG00620, NA19398, NA19078, HG00614, NA19223, HG00421, NA19713, NA12830, NA19102, NA18873, NA19116, NA19213, NA18983, HG00274, HG00595, NA18989, NA18505, NA18488, NA19758, NA19463, NA18511, NA18522, NA18549, NA18622, NA18487, HG01437
Known GenesPRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv837e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss164
Observed Complex0
Frequencyn/a


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