A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3403612



Internal ID15250574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109715288..109715302hg38UCSC Ensembl
Innerchr5:109715279..109715311hg38UCSC Ensembl
Outerchr5:109715265..109715325hg38UCSC Ensembl
chr5:109050989..109051003hg19UCSC Ensembl
Innerchr5:109050980..109051012hg19UCSC Ensembl
Outerchr5:109050966..109051026hg19UCSC Ensembl
chr5:109078888..109078902hg18UCSC Ensembl
Innerchr5:109078911..109078879hg18UCSC Ensembl
Outerchr5:109078865..109078925hg18UCSC Ensembl
Cytoband5q21.3
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 Variantsessv8926052, essv8926049, essv8926073, essv8926044, essv8926084, essv8926071, essv8926057, essv8926092, essv8926040, essv8926043, essv8926054, essv8926045, essv8926038, essv8926061, essv8926051, essv8926082, essv8926089, essv8926034, essv8926066, essv8926088, essv8926048, essv8926078, essv8926039, essv8926070, essv8926050, essv8926087, essv8926042, essv8926076, essv8926035, essv8926065, essv8926046, essv8926064, essv8926032, essv8926075, essv8926077, essv8926056, essv8926063, essv8926090, essv8926079, essv8926085, essv8926037, essv8926059, essv8926072, essv8926062, essv8926055, essv8926068, essv8926074, essv8926086, essv8926081, essv8926053, essv8926067, essv8926060, essv8926041, essv8926083, essv8926033
SamplesNA12717, NA18947, NA18592, NA18980, NA18561, NA11920, NA11931, NA18603, NA12751, NA18545, NA18959, NA18526, NA12750, NA19005, NA18944, NA18550, NA18519, NA18558, NA18960, NA18942, NA11918, NA18582, NA18571, NA19138, NA18964, NA18949, NA12044, NA18638, NA11831, NA18951, NA18605, NA18572, NA18948, NA18537, NA18566, NA18573, NA11894, NA18555, NA18570, NA18593, NA18576, NA18542, NA12716, NA18961, NA18952, NA18564, NA18943, NA06986, NA18609, NA18552, NA12006, NA12154, NA18562, NA18965, NA18577
Known GenesMAN2A1, MIR548C, MIR548Z
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3403612
Frequency
Sample Size185
Observed Gain55
Observed Loss0
Observed Complex0
Frequencyn/a


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