A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391333



Internal ID15238300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60793264..60793275hg38UCSC Ensembl
Innerchr13:60793254..60793282hg38UCSC Ensembl
Outerchr13:60793243..60793293hg38UCSC Ensembl
chr13:61367398..61367409hg19UCSC Ensembl
Innerchr13:61367388..61367416hg19UCSC Ensembl
Outerchr13:61367377..61367427hg19UCSC Ensembl
chr13:60265399..60265410hg18UCSC Ensembl
Innerchr13:60265417..60265389hg18UCSC Ensembl
Outerchr13:60265378..60265428hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8961076, essv8961109, essv8961090, essv8961065, essv8961100, essv8961119, essv8961112, essv8961105, essv8961099, essv8961113, essv8961068, essv8961091, essv8961069, essv8961111, essv8961073, essv8961063, essv8961064, essv8961084, essv8961118, essv8961097, essv8961077, essv8961094, essv8961116, essv8961121, essv8961096, essv8961071, essv8961110, essv8961087, essv8961082, essv8961101, essv8961066, essv8961089, essv8961107, essv8961074, essv8961083, essv8961120, essv8961067, essv8961108, essv8961072, essv8961079, essv8961075, essv8961102, essv8961093, essv8961086, essv8961078, essv8961106, essv8961117, essv8961095, essv8961080, essv8961104, essv8961085, essv8961088, essv8961098
SamplesNA12717, NA18592, NA12414, NA18980, NA18561, NA12751, NA18545, NA18959, NA18563, NA18944, NA18550, NA18558, NA18547, NA18960, NA18942, NA18916, NA11918, NA07347, NA18582, NA18571, NA12287, NA18964, NA11994, NA12828, NA11831, NA10847, NA18605, NA12489, NA12003, NA18579, NA18572, NA18948, NA18566, NA18499, NA12249, NA18555, NA18570, NA18945, NA18576, NA12043, NA18608, NA18542, NA12716, NA18961, NA18564, NA12763, NA06986, NA18505, NA19129, NA12006, NA07000, NA18562, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391333
Frequency
Sample Size185
Observed Gain53
Observed Loss0
Observed Complex0
Frequencyn/a


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