A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623108



Internal ID7009965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45766709..45809904hg38UCSC Ensembl
chr10:46262157..46305352hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3843196
hg1943196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114e214
Supporting Variantsessv13773469, essv13773490, essv13773488, essv13773478, essv13773477, essv13773517, essv13773466, essv13773495, essv13773489, essv13773473, essv13773515, essv13773504, essv13773494, essv13773476, essv13773491, essv13773474, essv13773519, essv13773470, essv13773496, essv13773475, essv13773508, essv13773471, essv13773483, essv13773465, essv13773497, essv13773468, essv13773472, essv13773501, essv13773507, essv13773518, essv13773464, essv13773492, essv13773516, essv13773511, essv13773509, essv13773512, essv13773493, essv13773485, essv13773480, essv13773500, essv13773510, essv13773506, essv13773467, essv13773505, essv13773486, essv13773482, essv13773487, essv13773484, essv13773479, essv13773502, essv13773498, essv13773499, essv13773513, essv13773481, essv13773514, essv13773503
SamplesNA20339, HG03366, NA18924, HG03052, NA18507, HG02476, HG03297, NA18510, HG03095, HG03082, HG03135, HG02595, NA20317, NA19131, HG03079, NA18868, NA19372, HG03045, NA19172, NA19471, HG03352, NA19209, HG02623, NA19456, NA18867, NA20318, NA19027, HG03169, NA19210, HG03054, HG02554, HG02757, HG03294, NA19655, HG03571, HG02666, HG02256, NA19225, NA18523, NA19095, HG02675, HG02330, HG01444, NA19440, NA18909, HG03461, NA19435, HG03473, HG03419, NA20357, NA19759, NA19472, HG03097, HG03066, HG03410, HG02805
Known GenesFAM21C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623108
Frequency
Sample Size2504
Observed Gain56
Observed Loss0
Observed Complex0
Frequencyn/a


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