A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv172e214



Internal ID18980347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133442774..133554993hg38UCSC Ensembl
chr10:135256278..135368497hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38112220
hg19112220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3625048, esv3625047
SamplesHG02715, HG00309, HG02427, NA12489, HG01798, HG03084, HG03410, NA18501, HG01849, NA19060, HG03301, HG03313, NA18948, NA18648, NA18516, HG00428, HG02029, HG01500, HG03401, HG03548, HG04176, NA20763, NA19701, HG00113, HG01142, HG02323, NA20798, NA18505, NA12287, HG03457, NA19037, HG03049, HG02836, HG02312, HG02053, NA18934, NA19314, NA20356, HG03882, NA20811, HG00638, NA19908, HG02143, NA12234, HG02058, HG02537, NA20291, NA19716, HG01766, NA20795, HG00255, HG00559, HG02594, HG02439, HG01281, HG01967, HG02401, HG02938, HG01447, HG00458, HG02614, HG01697, HG03446, HG01326, NA20357, HG02635, HG01973, HG02645, HG03629, HG03745, HG02075, HG03081, NA19198, HG03640, NA19204, HG04006, HG03730, NA19385, HG01602, NA20339, HG03091
Known GenesCYP2E1, SCART1, SYCE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv172e214
Frequency
Sample Size2504
Observed Gain81
Observed Loss0
Observed Complex0
Frequencyn/a


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