Variant Details

Variant: esv3304242

Internal ID

15151190

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr6:143630227..143630228	hg38	UCSC Ensembl
Inner	chr6:143630210..143630245	hg38	UCSC Ensembl
Outer	chr6:143630209..143630246	hg38	UCSC Ensembl
	chr6:143951364..143951365	hg19	UCSC Ensembl
Inner	chr6:143951347..143951382	hg19	UCSC Ensembl
Outer	chr6:143951346..143951383	hg19	UCSC Ensembl
	chr6:143993057..143993058	hg18	UCSC Ensembl
Inner	chr6:143993075..143993040	hg18	UCSC Ensembl
Outer	chr6:143993039..143993076	hg18	UCSC Ensembl

Cytoband

6q24.2

Allele length

Assembly	Allele length
hg38	287
hg19	287
hg18	287

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7833240, essv7824933, essv7823486, essv7772374, essv7790787, essv7802206, essv7827314, essv7827594, essv7781429, essv7807918, essv7797661, essv7784340, essv7801613, essv7835788, essv7829119, essv7795468, essv7794137, essv7817091, essv7811520, essv7818758, essv7779949, essv7835873, essv7772039, essv7786375, essv7818285, essv7805078, essv7821929, essv7809036, essv7828456, essv7770578, essv7773749, essv7775182, essv7807222, essv7776471, essv7809824, essv7834392, essv7819759, essv7801058, essv7810482, essv7831939, essv7822881, essv7809610, essv7818974, essv7803133, essv7813491, essv7799324, essv7828138, essv7808322, essv7829893, essv7785437, essv7810089, essv7790036, essv7800142, essv7833585, essv7776166, essv7836299, essv7793660, essv7771174, essv7817763, essv7793102, essv7812903, essv7800733, essv7824556, essv7773297, essv7774124, essv7797889, essv7824220, essv7813292, essv7806541, essv7787941, essv7788461

Samples

NA18502, NA12717, NA11830, NA18947, NA11995, NA11829, NA12814, NA10851, NA12414, NA11931, NA18603, NA12045, NA12004, NA18510, NA12750, NA12155, NA07357, NA07346, NA18940, NA18489, NA12891, NA18960, NA18916, NA11992, NA07347, NA12287, NA19138, NA12761, NA12156, NA19238, NA12044, NA11994, NA12815, NA18973, NA11993, NA11831, NA10847, NA18605, NA12489, NA12003, NA12878, NA12872, NA18948, NA11894, NA11840, NA18856, NA12249, NA12892, NA18532, NA12144, NA18523, NA18945, NA18953, NA12716, NA18909, NA11881, NA19147, NA07051, NA18943, NA12874, NA07037, NA12763, NA06986, NA19143, NA19093, NA18552, NA18505, NA19129, NA07000, NA12154, NA18577

Known Genes

PHACTR2

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3304242

Frequency

Sample Size	185
Observed Gain	71
Observed Loss	0
Observed Complex	0
Frequency	n/a