A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338698



Internal ID14838968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152391757..152391769hg38UCSC Ensembl
Innerchr2:152391748..152391778hg38UCSC Ensembl
Outerchr2:152391734..152391790hg38UCSC Ensembl
chr2:153248271..153248283hg19UCSC Ensembl
Innerchr2:153248262..153248292hg19UCSC Ensembl
Outerchr2:153248248..153248304hg19UCSC Ensembl
chr2:152956517..152956529hg18UCSC Ensembl
Innerchr2:152956538..152956508hg18UCSC Ensembl
Outerchr2:152956494..152956550hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8908730, essv8908759, essv8908746, essv8908750, essv8908773, essv8908751, essv8908774, essv8908721, essv8908794, essv8908739, essv8908775, essv8908741, essv8908710, essv8908728, essv8908745, essv8908787, essv8908755, essv8908719, essv8908718, essv8908748, essv8908800, essv8908766, essv8908792, essv8908801, essv8908756, essv8908743, essv8908779, essv8908727, essv8908768, essv8908788, essv8908765, essv8908798, essv8908706, essv8908778, essv8908790, essv8908713, essv8908735, essv8908783, essv8908709, essv8908784, essv8908764, essv8908738, essv8908707, essv8908729, essv8908742, essv8908732, essv8908771, essv8908777, essv8908776, essv8908802, essv8908744, essv8908749, essv8908711, essv8908785, essv8908712, essv8908791, essv8908733, essv8908724, essv8908752, essv8908760, essv8908797, essv8908723, essv8908761, essv8908708, essv8908734, essv8908763, essv8908737, essv8908757, essv8908754, essv8908789, essv8908799, essv8908796, essv8908762, essv8908740, essv8908720, essv8908770, essv8908731, essv8908705, essv8908753, essv8908767, essv8908716, essv8908795, essv8908786, essv8908715, essv8908772, essv8908722, essv8908726, essv8908717
SamplesNA19137, NA11881, NA18870, NA18964, NA12154, NA12043, NA12249, NA18861, NA12750, NA07037, NA18952, NA11920, NA18501, NA18526, NA11918, NA18550, NA10847, NA18603, NA11931, NA18516, NA18953, NA12828, NA18947, NA18608, NA18542, NA07051, NA19257, NA18965, NA18505, NA12287, NA18943, NA19147, NA18949, NA12414, NA11919, NA12763, NA18912, NA18508, NA18566, NA12155, NA18576, NA18563, NA07357, NA18592, NA18856, NA18638, NA18956, NA18959, NA18609, NA11831, NA11894, NA18973, NA11995, NA12144, NA12751, NA12006, NA07346, NA12716, NA18572, NA19102, NA06986, NA18558, NA18858, NA18942, NA18961, NA18562, NA18940, NA10851, NA18582, NA18552, NA12156, NA18577, NA19099, NA11992, NA12003, NA18944, NA19225, NA11993, NA18499, NA18571, NA12045, NA11829, NA12717, NA18532, NA18853, NA18555, NA07000, NA18980
Known GenesFMNL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338698
Frequency
Sample Size185
Observed Gain88
Observed Loss0
Observed Complex0
Frequencyn/a


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