A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371820



Internal ID14872079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45969053..45969064hg38UCSC Ensembl
Innerchr2:45969043..45969071hg38UCSC Ensembl
Outerchr2:45969032..45969082hg38UCSC Ensembl
chr2:46196192..46196203hg19UCSC Ensembl
Innerchr2:46196182..46196210hg19UCSC Ensembl
Outerchr2:46196171..46196221hg19UCSC Ensembl
chr2:46049696..46049707hg18UCSC Ensembl
Innerchr2:46049714..46049686hg18UCSC Ensembl
Outerchr2:46049675..46049725hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8905897, essv8905926, essv8905905, essv8905923, essv8905918, essv8905904, essv8905913, essv8905920, essv8905885, essv8905888, essv8905916, essv8905921, essv8905883, essv8905898, essv8905895, essv8905906, essv8905881, essv8905899, essv8905909, essv8905928, essv8905896, essv8905907, essv8905894, essv8905922, essv8905908, essv8905911, essv8905889, essv8905886, essv8905882, essv8905927, essv8905884, essv8905915, essv8905902, essv8905890, essv8905887, essv8905910, essv8905893, essv8905900, essv8905917, essv8905924, essv8905912, essv8905901, essv8905919
SamplesNA18870, NA12154, NA12489, NA12249, NA18520, NA07037, NA18952, NA11920, NA18501, NA18517, NA18573, NA07051, NA19257, NA18505, NA19147, NA12414, NA12763, NA18508, NA12155, NA07357, NA11894, NA11995, NA18916, NA12144, NA12006, NA07346, NA18537, NA18498, NA19102, NA06986, NA18522, NA19005, NA18961, NA10851, NA18907, NA18909, NA19099, NA12003, NA18944, NA18499, NA12045, NA12717, NA07000
Known GenesPRKCE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371820
Frequency
Sample Size185
Observed Gain43
Observed Loss0
Observed Complex0
Frequencyn/a


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