A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641380



Internal ID7028154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80631174..80640232hg38UCSC Ensembl
chr17:78604974..78614032hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg389059
hg199059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv591e214
Supporting Variantsessv15759300, essv15759336, essv15759326, essv15759304, essv15759317, essv15759337, essv15759332, essv15759299, essv15759334, essv15759330, essv15759353, essv15759323, essv15759290, essv15759333, essv15759310, essv15759341, essv15759343, essv15759350, essv15759297, essv15759293, essv15759303, essv15759298, essv15759301, essv15759309, essv15759342, essv15759324, essv15759286, essv15759313, essv15759319, essv15759294, essv15759340, essv15759327, essv15759307, essv15759306, essv15759329, essv15759320, essv15759339, essv15759314, essv15759348, essv15759292, essv15759325, essv15759318, essv15759347, essv15759311, essv15759328, essv15759296, essv15759352, essv15759331, essv15759335, essv15759351, essv15759344, essv15759338, essv15759349, essv15759308, essv15759322, essv15759288, essv15759302, essv15759287, essv15759295, essv15759312, essv15759305, essv15759321, essv15759315, essv15759291, essv15759346, essv15759345, essv15759316, essv15759289
SamplesHG01462, HG01443, HG01961, HG02275, HG01374, HG00233, NA19795, HG01465, HG01947, HG01571, HG00127, HG01351, HG02146, HG02687, HG01968, NA07048, HG02301, HG02299, HG01354, NA21108, HG01365, NA19782, HG01455, NA21109, HG01440, HG01950, HG00637, HG01709, NA20757, HG00108, HG02265, HG00732, NA20810, HG01938, NA19717, NA20314, HG03775, HG03823, NA20299, HG02259, NA06989, HG04189, HG02286, HG00258, NA20872, HG03778, HG01980, NA21144, HG01551, HG01375, NA20504, HG00116, HG01432, HG01935, NA12830, HG03716, NA19726, HG02291, NA19900, HG02051, NA20886, HG01431, HG01378, HG01125, HG01923, HG01578, HG00553, HG01976
Known GenesRPTOR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641380
Frequency
Sample Size2504
Observed Gain68
Observed Loss0
Observed Complex0
Frequencyn/a


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