A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400210



Internal ID14900487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7176222..7176233hg38UCSC Ensembl
Innerchr16:7176212..7176240hg38UCSC Ensembl
Outerchr16:7176201..7176251hg38UCSC Ensembl
chr16:7226223..7226234hg19UCSC Ensembl
Innerchr16:7226213..7226241hg19UCSC Ensembl
Outerchr16:7226202..7226252hg19UCSC Ensembl
chr16:7166224..7166235hg18UCSC Ensembl
Innerchr16:7166242..7166214hg18UCSC Ensembl
Outerchr16:7166203..7166253hg18UCSC Ensembl
Cytoband16p13.2
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 Variantsessv8970030, essv8970029, essv8970042, essv8970062, essv8970068, essv8970056, essv8970088, essv8970060, essv8970083, essv8970045, essv8970050, essv8970064, essv8970028, essv8970053, essv8970035, essv8970054, essv8970049, essv8970057, essv8970066, essv8970038, essv8970063, essv8970079, essv8970084, essv8970067, essv8970089, essv8970055, essv8970044, essv8970051, essv8970078, essv8970074, essv8970052, essv8970027, essv8970043, essv8970072, essv8970046, essv8970036, essv8970087, essv8970075, essv8970086, essv8970032, essv8970076, essv8970058, essv8970073, essv8970041, essv8970071, essv8970031, essv8970047, essv8970080, essv8970085, essv8970061, essv8970077, essv8970034, essv8970069, essv8970039, essv8970040, essv8970033, essv8970065, essv8970082
SamplesNA18870, NA18964, NA18605, NA18520, NA18561, NA18523, NA19114, NA18501, NA19093, NA18526, NA18603, NA18947, NA18573, NA18489, NA19210, NA12776, NA19257, NA18505, NA12044, NA19147, NA11919, NA18508, NA11994, NA12155, NA18576, NA18960, NA07357, NA18638, NA18956, NA18959, NA11831, NA19190, NA18537, NA19129, NA19102, NA19005, NA18510, NA18502, NA18564, NA18858, NA18942, NA18562, NA18579, NA18945, NA18582, NA19138, NA18907, NA18909, NA19116, NA18577, NA19099, NA11992, NA18944, NA18499, NA12717, NA18853, NA18555, NA18980
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400210
Frequency
Sample Size185
Observed Gain58
Observed Loss0
Observed Complex0
Frequencyn/a


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