A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306393



Internal ID14806655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7176222..7176223hg38UCSC Ensembl
Innerchr16:7176205..7176240hg38UCSC Ensembl
Outerchr16:7176204..7176241hg38UCSC Ensembl
chr16:7226223..7226224hg19UCSC Ensembl
Innerchr16:7226206..7226241hg19UCSC Ensembl
Outerchr16:7226205..7226242hg19UCSC Ensembl
chr16:7166224..7166225hg18UCSC Ensembl
Innerchr16:7166242..7166207hg18UCSC Ensembl
Outerchr16:7166206..7166243hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7829991, essv7819578, essv7805246, essv7826299, essv7802101, essv7787314, essv7831370, essv7818137, essv7811812, essv7774643, essv7773267, essv7778200, essv7799442, essv7785061, essv7784464, essv7793215, essv7832704, essv7797301, essv7812720, essv7811060, essv7825169, essv7782872, essv7785810, essv7824273, essv7809745, essv7832020, essv7807843, essv7775696, essv7781292, essv7780614, essv7830414, essv7779419, essv7794113, essv7798206, essv7812390, essv7823008, essv7786563, essv7832842, essv7808679, essv7803450, essv7814980, essv7830723, essv7777863, essv7801147, essv7823557, essv7817637, essv7776383, essv7804905, essv7775282, essv7836459, essv7805717, essv7817398, essv7826172, essv7816029, essv7810713, essv7777100, essv7823977, essv7816662, essv7782556, essv7814679, essv7827173, essv7796874, essv7795680, essv7807056, essv7829944, essv7816238
SamplesNA18870, NA18964, NA18605, NA18520, NA18561, NA18523, NA19114, NA18501, NA19093, NA18526, NA18603, NA18969, NA18947, NA18573, NA18489, NA19210, NA12776, NA19257, NA18505, NA12044, NA12287, NA19147, NA19143, NA11919, NA18508, NA19239, NA11994, NA12155, NA18576, NA18960, NA07357, NA12873, NA18638, NA18956, NA18959, NA11831, NA19190, NA18537, NA19129, NA19102, NA19005, NA18510, NA18502, NA12872, NA18564, NA18858, NA18942, NA18562, NA18579, NA18945, NA18582, NA19138, NA18907, NA18909, NA19116, NA18577, NA19099, NA11992, NA18944, NA18499, NA19240, NA12717, NA12874, NA18853, NA18555, NA18980
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306393
Frequency
Sample Size185
Observed Gain66
Observed Loss0
Observed Complex0
Frequencyn/a


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