Variant Details

Variant: esv3305663

Internal ID

14805925

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:189094695..189094696	hg38	UCSC Ensembl
Inner	chr2:189094678..189094713	hg38	UCSC Ensembl
Outer	chr2:189094677..189094714	hg38	UCSC Ensembl
	chr2:189959421..189959422	hg19	UCSC Ensembl
Inner	chr2:189959404..189959439	hg19	UCSC Ensembl
Outer	chr2:189959403..189959440	hg19	UCSC Ensembl
	chr2:189667666..189667667	hg18	UCSC Ensembl
Inner	chr2:189667684..189667649	hg18	UCSC Ensembl
Outer	chr2:189667648..189667685	hg18	UCSC Ensembl

Cytoband

2q32.2

Allele length

Assembly	Allele length
hg38	291
hg19	291
hg18	291

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7807385, essv7791847, essv7775486, essv7823384, essv7783594, essv7792601, essv7833097, essv7833372, essv7829873, essv7834391, essv7775082, essv7805440, essv7798987, essv7816543, essv7773862, essv7784078, essv7780176, essv7803418, essv7779544, essv7797669, essv7818026, essv7785885, essv7790143, essv7806871, essv7814979, essv7820573, essv7808924, essv7772346, essv7774473, essv7832348, essv7819804, essv7781070, essv7834728, essv7816152, essv7798639, essv7776060, essv7825114, essv7789087, essv7808592, essv7771338, essv7776479, essv7779152, essv7813043, essv7835570, essv7832236, essv7824900, essv7812694, essv7791059, essv7788920, essv7818837, essv7800627, essv7790584, essv7773082, essv7782481, essv7788349, essv7772058, essv7822537, essv7793164, essv7835113, essv7810675, essv7803101, essv7821494, essv7786854, essv7802198, essv7794307, essv7821232, essv7800275, essv7797162, essv7801703, essv7830712, essv7810952, essv7816391, essv7826731, essv7781896, essv7822694, essv7787071, essv7785338, essv7808034, essv7781310, essv7817667, essv7828983, essv7830997, essv7778333, essv7815712, essv7804819, essv7823962, essv7815508, essv7827298, essv7827915, essv7817243, essv7820266, essv7829225, essv7831653, essv7796341, essv7777808, essv7786277, essv7799475, essv7801206, essv7791421, essv7809438, essv7795729, essv7804846, essv7827760, essv7813553, essv7787662, essv7793419, essv7780511, essv7797960, essv7806673, essv7828663, essv7774520, essv7814393, essv7822021, essv7777394, essv7784358

Samples

NA19137, NA11881, NA18870, NA18964, NA12154, NA12043, NA12489, NA12249, NA18605, NA07347, NA12750, NA07037, NA18951, NA18561, NA18523, NA18952, NA19114, NA11920, NA19093, NA18526, NA11918, NA18550, NA18570, NA18545, NA18603, NA18948, NA11931, NA12828, NA18947, NA18608, NA18542, NA18489, NA12776, NA07051, NA19108, NA18505, NA12044, NA12287, NA19147, NA18949, NA19143, NA12414, NA11919, NA12763, NA19239, NA11840, NA12004, NA12155, NA18563, NA07357, NA12873, NA12761, NA18638, NA18956, NA18959, NA18609, NA18547, NA11894, NA18973, NA11995, NA18916, NA18593, NA12234, NA12144, NA18970, NA12751, NA19190, NA12006, NA07346, NA12716, NA18537, NA19129, NA12892, NA18572, NA19102, NA06986, NA19238, NA19005, NA18502, NA18558, NA18564, NA18858, NA18961, NA18562, NA18579, NA18945, NA12891, NA10851, NA18582, NA18552, NA19138, NA18907, NA18909, NA12749, NA12812, NA12156, NA19116, NA19099, NA12878, NA11830, NA11992, NA12003, NA18944, NA11993, NA18499, NA18571, NA12045, NA11829, NA19240, NA12717, NA12874, NA18532, NA18555, NA18519, NA07000

Known Genes

COL5A2

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3305663

Frequency

Sample Size	185
Observed Gain	115
Observed Loss	0
Observed Complex	0
Frequency	n/a