Variant Details

Variant: esv3306716

Internal ID

15153664

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr3:45501159..45501160	hg38	UCSC Ensembl
Inner	chr3:45501142..45501177	hg38	UCSC Ensembl
Outer	chr3:45501141..45501178	hg38	UCSC Ensembl
	chr3:45542651..45542652	hg19	UCSC Ensembl
Inner	chr3:45542634..45542669	hg19	UCSC Ensembl
Outer	chr3:45542633..45542670	hg19	UCSC Ensembl
	chr3:45517655..45517656	hg18	UCSC Ensembl
Inner	chr3:45517673..45517638	hg18	UCSC Ensembl
Outer	chr3:45517637..45517674	hg18	UCSC Ensembl

Cytoband

3p21.31

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

essv7828573, essv7780852, essv7830306, essv7778892, essv7801301, essv7797452, essv7780103, essv7783899, essv7823869, essv7836195, essv7811621, essv7809699, essv7803460, essv7829398, essv7795028, essv7808596, essv7819692, essv7785134, essv7793562, essv7783001, essv7796083, essv7824737, essv7792925, essv7808648, essv7788687, essv7787199, essv7774283, essv7778206, essv7774934, essv7775896, essv7772628, essv7815088, essv7770124, essv7776689, essv7771736, essv7784793, essv7779331, essv7821281, essv7827174, essv7807987, essv7816809, essv7771370, essv7791691, essv7789134, essv7834005, essv7802862, essv7814489, essv7813069, essv7799007, essv7801828, essv7785715, essv7795320, essv7820728, essv7817742, essv7833555, essv7826922, essv7796763, essv7806829, essv7821587, essv7800972, essv7782411, essv7805120, essv7807403, essv7822177, essv7781311, essv7830470, essv7815656, essv7787494, essv7811113, essv7824501, essv7834959, essv7812495, essv7822797, essv7809381, essv7793854, essv7776158, essv7781748, essv7790852, essv7773993, essv7794398, essv7827634, essv7813930, essv7783527, essv7824954, essv7823645, essv7786637, essv7829097, essv7773268, essv7798321, essv7790450, essv7810617, essv7810170

Samples

NA12717, NA11830, NA18947, NA11995, NA18592, NA10851, NA18561, NA11920, NA11931, NA18603, NA12751, NA18545, NA12004, NA18959, NA18526, NA12750, NA12155, NA07357, NA07346, NA18563, NA19005, NA18944, NA18940, NA18550, NA12812, NA12891, NA18558, NA18960, NA18942, NA11992, NA07347, NA18582, NA12287, NA18964, NA18949, NA12156, NA12044, NA11994, NA18973, NA18638, NA11993, NA11831, NA18605, NA12489, NA12003, NA12878, NA12872, NA18956, NA18572, NA18948, NA18907, NA18537, NA18566, NA18573, NA18499, NA11894, NA11840, NA18856, NA12249, NA12892, NA18555, NA12144, NA18570, NA18593, NA18945, NA18576, NA12043, NA18542, NA12716, NA19108, NA18961, NA18952, NA19147, NA18564, NA12873, NA07051, NA18943, NA12874, NA07037, NA12763, NA06986, NA12749, NA19093, NA18609, NA18552, NA12006, NA07000, NA12154, NA18562, NA12776, NA18965, NA18577

Known Genes

LARS2, LARS2-AS1

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3306716

Frequency

Sample Size	185
Observed Gain	92
Observed Loss	0
Observed Complex	0
Frequency	n/a