A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387276



Internal ID14887558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107599839..107599845hg38UCSC Ensembl
Innerchr1:107599831..107599853hg38UCSC Ensembl
Outerchr1:107599825..107599857hg38UCSC Ensembl
chr1:108142461..108142467hg19UCSC Ensembl
Innerchr1:108142453..108142475hg19UCSC Ensembl
Outerchr1:108142447..108142479hg19UCSC Ensembl
chr1:107943984..107943990hg18UCSC Ensembl
Innerchr1:107943998..107943976hg18UCSC Ensembl
Outerchr1:107943970..107944002hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8900908, essv8900873, essv8900915, essv8900921, essv8900902, essv8900879, essv8900881, essv8900901, essv8900905, essv8900900, essv8900893, essv8900922, essv8900941, essv8900878, essv8900889, essv8900872, essv8900913, essv8900890, essv8900919, essv8900868, essv8900937, essv8900887, essv8900874, essv8900932, essv8900912, essv8900898, essv8900882, essv8900926, essv8900928, essv8900894, essv8900895, essv8900938, essv8900923, essv8900920, essv8900896, essv8900904, essv8900886, essv8900933, essv8900883, essv8900930, essv8900939, essv8900911, essv8900931, essv8900924, essv8900940, essv8900910, essv8900906, essv8900934, essv8900929, essv8900871, essv8900870, essv8900888, essv8900897, essv8900909, essv8900916, essv8900885, essv8900876, essv8900877, essv8900907, essv8900875, essv8900927, essv8900917, essv8900935, essv8900884, essv8900899, essv8900918
SamplesNA11881, NA18870, NA18964, NA12154, NA12043, NA12249, NA18861, NA07347, NA12750, NA18871, NA18561, NA18523, NA19114, NA18501, NA11918, NA18550, NA18570, NA10847, NA18603, NA11931, NA18947, NA18542, NA18489, NA07051, NA18965, NA18505, NA12044, NA18943, NA19147, NA18949, NA12004, NA11994, NA18576, NA18563, NA07357, NA18956, NA18609, NA11831, NA11894, NA18973, NA18916, NA12144, NA12716, NA18537, NA19172, NA19102, NA06986, NA18522, NA18558, NA18504, NA18562, NA18940, NA10851, NA18582, NA19138, NA18907, NA12749, NA12156, NA11830, NA11992, NA18944, NA12045, NA12717, NA18555, NA18519, NA07000
Known GenesVAV3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387276
Frequency
Sample Size185
Observed Gain66
Observed Loss0
Observed Complex0
Frequencyn/a


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