A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16e214



Internal ID22755910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21975980..22005948hg38UCSC Ensembl
chr1:22302473..22332441hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3829969
hg1929969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3585459, esv3585456
SamplesNA12383, HG03096, HG00235, HG02944, NA20891, HG00102, NA18647, NA18861, HG03163, HG03821, HG01815, NA11933, NA18979, NA18545, HG03455, HG00364, HG01971, NA18616, HG01947, HG03139, HG02356, HG00097, NA20806, HG01140, HG03199, NA19446, HG03074, HG03464, HG01506, NA19319, NA19315, HG02810, HG02407, HG01779, HG03499, HG01853, NA20774, NA18923, NA20900, HG03370, HG02854, HG03105, NA19023, NA19457, NA18498, NA18949, NA20910, NA19922, HG02143, HG03460, HG02703, HG02224, NA18977, NA19372, NA18617, NA19317, HG02471, HG01176, NA21107, NA20412, HG00406, HG02946, NA19445, HG00253, HG02819, NA20818, NA19007, NA18645, HG00154, HG02977, HG00443, NA19070, HG02334, HG02090, NA19462, NA19086, HG00701, NA19184, HG01515, NA18991, HG02390, HG01989, NA20126, NA18910, HG02508, NA18948, HG01675, HG03021, NA18907, HG01311, HG03382, HG00479, HG04173, HG01241, NA19750, HG03571, NA20282, NA19257, NA19452, HG02031, NA18570, HG01107, HG01075, NA19012, HG02484, HG02255, NA19003, NA19206, NA19440, NA19834, HG02799, HG00625, HG02010, HG03708, HG01678, NA19473, HG02721, NA19331, HG01958, NA12046, NA19334, HG01866, NA19467, NA19085, NA18615, NA06986, HG03103, NA19248, HG03789, HG03097, HG00421, NA20334, NA18994, HG00123, HG02676, HG03410, NA18876, HG01781, HG03470, HG03882, NA18522, HG03198, HG00180, HG00362, NA19153, NA21120, HG01608
Known GenesCELA3A, CELA3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv16e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss147
Observed Complex0
Frequencyn/a


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