Variant Details

Variant: esv3306393

Internal ID

14806655

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:7176222..7176223	hg38	UCSC Ensembl
Inner	chr16:7176205..7176240	hg38	UCSC Ensembl
Outer	chr16:7176204..7176241	hg38	UCSC Ensembl
	chr16:7226223..7226224	hg19	UCSC Ensembl
Inner	chr16:7226206..7226241	hg19	UCSC Ensembl
Outer	chr16:7226205..7226242	hg19	UCSC Ensembl
	chr16:7166224..7166225	hg18	UCSC Ensembl
Inner	chr16:7166242..7166207	hg18	UCSC Ensembl
Outer	chr16:7166206..7166243	hg18	UCSC Ensembl

Cytoband

16p13.2

Allele length

Assembly	Allele length
hg38	292
hg19	292
hg18	292

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7814679, essv7836459, essv7832704, essv7826172, essv7823008, essv7775696, essv7797301, essv7778200, essv7830414, essv7779419, essv7803450, essv7825169, essv7812720, essv7773267, essv7823977, essv7776383, essv7810713, essv7811812, essv7824273, essv7777100, essv7808679, essv7819578, essv7784464, essv7818137, essv7782872, essv7814980, essv7777863, essv7829944, essv7817398, essv7812390, essv7801147, essv7816238, essv7829991, essv7807843, essv7782556, essv7796874, essv7809745, essv7785810, essv7804905, essv7802101, essv7780614, essv7817637, essv7805246, essv7794113, essv7775282, essv7830723, essv7826299, essv7807056, essv7816029, essv7786563, essv7787314, essv7811060, essv7832842, essv7793215, essv7832020, essv7781292, essv7785061, essv7798206, essv7816662, essv7823557, essv7805717, essv7795680, essv7831370, essv7774643, essv7799442, essv7827173

Samples

NA18502, NA12717, NA18947, NA18508, NA18980, NA18561, NA18603, NA18959, NA19190, NA18870, NA18526, NA18510, NA12155, NA07357, NA18969, NA19005, NA18944, NA18489, NA18960, NA18942, NA11992, NA18582, NA12287, NA19138, NA18964, NA12044, NA11994, NA18520, NA19239, NA18638, NA11831, NA18605, NA19210, NA12872, NA18956, NA18579, NA18907, NA18537, NA18573, NA19114, NA11919, NA18499, NA18853, NA19099, NA19257, NA18555, NA18523, NA18858, NA18945, NA18576, NA18909, NA19147, NA18564, NA19240, NA12873, NA12874, NA19143, NA18501, NA19093, NA19102, NA19116, NA18505, NA19129, NA18562, NA12776, NA18577

Known Genes

RBFOX1

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3306393

Frequency

Sample Size	185
Observed Gain	66
Observed Loss	0
Observed Complex	0
Frequency	n/a