Variant Details

Variant: esv3307139

Internal ID

15154087

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:30447109..30447110	hg38	UCSC Ensembl
Inner	chr2:30447091..30447128	hg38	UCSC Ensembl
Outer	chr2:30447090..30447129	hg38	UCSC Ensembl
	chr2:30669975..30669976	hg19	UCSC Ensembl
Inner	chr2:30669957..30669994	hg19	UCSC Ensembl
Outer	chr2:30669956..30669995	hg19	UCSC Ensembl
	chr2:30523479..30523480	hg18	UCSC Ensembl
Inner	chr2:30523498..30523461	hg18	UCSC Ensembl
Outer	chr2:30523460..30523499	hg18	UCSC Ensembl

Cytoband

2p23.1

Allele length

Assembly	Allele length
hg38	296
hg19	296
hg18	296

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7770033, essv7808011, essv7807012, essv7783090, essv7818809, essv7794815, essv7783276, essv7810127, essv7826881, essv7773684, essv7811327, essv7791840, essv7771950, essv7832406, essv7773180, essv7794256, essv7776322, essv7783738, essv7773128, essv7784243, essv7809130, essv7784797, essv7835526, essv7792600, essv7777704, essv7834775, essv7795338, essv7829556, essv7787148, essv7831954, essv7793133, essv7821569, essv7806608, essv7782630

Samples

NA18502, NA18592, NA18561, NA11931, NA18545, NA07357, NA07346, NA18563, NA18519, NA12812, NA18489, NA18960, NA18571, NA19138, NA12761, NA18605, NA12489, NA18871, NA18566, NA18573, NA19114, NA11894, NA18856, NA18532, NA18593, NA18576, NA12043, NA18961, NA12873, NA18943, NA18609, NA19102, NA18505, NA12006

Known Genes

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3307139

Frequency

Sample Size	185
Observed Gain	34
Observed Loss	0
Observed Complex	0
Frequency	n/a