Variant Details

Variant: esv3306418

Internal ID

15153366

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:217316028..217316029	hg38	UCSC Ensembl
Inner	chr2:217316010..217316047	hg38	UCSC Ensembl
Outer	chr2:217316009..217316048	hg38	UCSC Ensembl
	chr2:218180751..218180752	hg19	UCSC Ensembl
Inner	chr2:218180733..218180770	hg19	UCSC Ensembl
Outer	chr2:218180732..218180771	hg19	UCSC Ensembl
	chr2:217888996..217888997	hg18	UCSC Ensembl
Inner	chr2:217889015..217888978	hg18	UCSC Ensembl
Outer	chr2:217888977..217889016	hg18	UCSC Ensembl

Cytoband

2q35

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

essv7826903, essv7797078, essv7821645, essv7775128, essv7828185, essv7804370, essv7788999, essv7790889, essv7780259, essv7779516, essv7825345, essv7830551, essv7817816, essv7777594, essv7792504, essv7830367, essv7784614, essv7781930, essv7831246, essv7789870, essv7807530, essv7772761, essv7802899, essv7775618, essv7824405, essv7806895, essv7797733, essv7811703, essv7808719, essv7778446, essv7771093, essv7770750, essv7785178, essv7778810, essv7823095, essv7801241, essv7836496, essv7827352, essv7776657, essv7799357, essv7782952, essv7816725, essv7835343, essv7771660, essv7835893, essv7829495, essv7786814, essv7821993, essv7798704, essv7828673, essv7805022, essv7793022, essv7808123, essv7832615, essv7813967, essv7784373, essv7818916, essv7777037, essv7831557, essv7825933, essv7805539, essv7788418, essv7801823, essv7829894, essv7800286, essv7811112, essv7773773, essv7773471, essv7786915, essv7810296, essv7795890, essv7774772, essv7788810, essv7809280, essv7813434, essv7819425, essv7800565, essv7792359, essv7834363, essv7812074, essv7823766, essv7772453, essv7798456, essv7780499, essv7822363, essv7825579, essv7796515, essv7806410, essv7786009, essv7834958, essv7802551, essv7834685, essv7794989, essv7824833, essv7809669, essv7833901, essv7777990, essv7783408, essv7774470, essv7815611, essv7776098, essv7819932, essv7787446, essv7770444, essv7833274, essv7772097, essv7803982, essv7814382, essv7820328, essv7822666, essv7817219

Samples

NA18502, NA12717, NA11830, NA11995, NA11829, NA18861, NA18592, NA18508, NA12814, NA10851, NA18980, NA18561, NA11920, NA11931, NA12045, NA12751, NA12004, NA18504, NA18959, NA18870, NA18526, NA18510, NA12750, NA12155, NA07357, NA18969, NA07346, NA18563, NA19005, NA18944, NA18940, NA12812, NA18489, NA12891, NA18960, NA11992, NA11918, NA07347, NA18582, NA18571, NA12287, NA18498, NA18964, NA18949, NA12761, NA18970, NA12156, NA19238, NA12044, NA11994, NA19172, NA12815, NA12828, NA18638, NA10847, NA18951, NA18605, NA12003, NA12878, NA12872, NA18956, NA18579, NA18572, NA18948, NA18907, NA18537, NA18566, NA18573, NA19114, NA11919, NA11894, NA11840, NA12249, NA18912, NA12892, NA18532, NA18853, NA18555, NA19225, NA12144, NA18523, NA18570, NA18858, NA18593, NA18576, NA12043, NA18608, NA18542, NA12716, NA11881, NA18961, NA19147, NA19240, NA07051, NA18943, NA12874, NA07037, NA06986, NA19143, NA18501, NA18609, NA19102, NA18505, NA19129, NA18511, NA07000, NA18522, NA12154, NA18562, NA18965, NA18577

Known Genes

DIRC3

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3306418

Frequency

Sample Size	185
Observed Gain	111
Observed Loss	0
Observed Complex	0
Frequency	n/a