A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639600



Internal ID6679691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89829646..89831997hg38UCSC Ensembl
Innerchr16:89829646..89831997hg38UCSC Ensembl
Outerchr16:89829303..89832327hg38UCSC Ensembl
chr16:89896054..89898405hg19UCSC Ensembl
Innerchr16:89896054..89898405hg19UCSC Ensembl
Outerchr16:89895711..89898735hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382352
hg192352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15569947, essv15569944, essv15569881, essv15569939, essv15569875, essv15569952, essv15569905, essv15569897, essv15569942, essv15569886, essv15569928, essv15569888, essv15569879, essv15569929, essv15569951, essv15569891, essv15569896, essv15569921, essv15569902, essv15569910, essv15569953, essv15569885, essv15569876, essv15569882, essv15569913, essv15569908, essv15569925, essv15569923, essv15569918, essv15569943, essv15569904, essv15569927, essv15569911, essv15569872, essv15569903, essv15569909, essv15569933, essv15569950, essv15569877, essv15569926, essv15569887, essv15569898, essv15569894, essv15569878, essv15569936, essv15569912, essv15569940, essv15569892, essv15569922, essv15569937, essv15569941, essv15569924, essv15569914, essv15569917, essv15569938, essv15569915, essv15569899, essv15569935, essv15569906, essv15569874, essv15569954, essv15569893, essv15569934, essv15569948, essv15569873, essv15569884, essv15569895, essv15569932, essv15569946, essv15569945, essv15569907, essv15569931, essv15569916, essv15569889, essv15569930, essv15569949, essv15569880, essv15569883, essv15569901, essv15569890, essv15569920, essv15569900, essv15569919
SamplesHG00313, NA12489, HG01775, NA12249, NA19712, NA12748, HG01603, NA20527, HG01612, HG01075, NA12342, HG00127, NA12347, NA20531, NA11918, HG02223, NA10847, NA20802, HG01131, HG01188, HG00111, HG00187, NA12341, HG01133, HG00256, NA20770, NA12414, HG00115, HG00339, NA12843, HG00346, HG01312, NA19917, HG02233, HG00096, NA07357, NA12762, HG00121, HG00315, HG00330, NA12761, HG01136, HG00264, NA11995, HG00254, NA19663, NA12830, NA12144, NA21102, HG00114, NA12006, HG00306, HG00159, HG00267, HG00108, HG01170, HG01676, HG01630, HG00246, HG04093, NA11832, HG00181, NA12413, HG00362, HG00118, HG02262, NA11992, NA12003, NA20810, HG00238, NA12546, HG02256, NA11932, HG01125, HG00288, NA12874, HG00137, HG02315, HG00143, NA12760, HG00376, HG00272, HG00271
Known GenesSPIRE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639600
Frequency
Sample Size2504
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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