Variant Details

Variant: esv3305962

Internal ID

15152910

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr14:51252262..51252263	hg38	UCSC Ensembl
Inner	chr14:51252245..51252280	hg38	UCSC Ensembl
Outer	chr14:51252244..51252281	hg38	UCSC Ensembl
	chr14:51718980..51718981	hg19	UCSC Ensembl
Inner	chr14:51718963..51718998	hg19	UCSC Ensembl
Outer	chr14:51718962..51718999	hg19	UCSC Ensembl
	chr14:50788730..50788731	hg18	UCSC Ensembl
Inner	chr14:50788748..50788713	hg18	UCSC Ensembl
Outer	chr14:50788712..50788749	hg18	UCSC Ensembl

Cytoband

14q22.1

Allele length

Assembly	Allele length
hg38	302
hg19	302
hg18	302

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7827589, essv7793884, essv7819380, essv7781976, essv7826350, essv7778323, essv7833220, essv7787354, essv7815669, essv7807168, essv7803798, essv7834795, essv7794505, essv7780839, essv7797053, essv7805234, essv7819773, essv7775772, essv7822980, essv7801632, essv7830655, essv7809401, essv7825892, essv7804919, essv7774118, essv7814418, essv7830104, essv7829555, essv7795993, essv7820760, essv7802424, essv7831852, essv7827190, essv7836479, essv7774766, essv7771837, essv7811656, essv7788459, essv7828546, essv7780695, essv7798505, essv7778543, essv7770456, essv7783484, essv7800560, essv7810895, essv7813176, essv7803898, essv7807942, essv7825104, essv7829788, essv7809663, essv7823625, essv7790620, essv7818588, essv7775192, essv7819924, essv7797470, essv7798763, essv7829137, essv7814934, essv7784980, essv7822061, essv7796613, essv7805696, essv7789833, essv7822266, essv7835596, essv7792499, essv7813695, essv7800037, essv7815599, essv7773250, essv7818722, essv7806644, essv7816627, essv7821485, essv7772846, essv7789078, essv7836197, essv7826992, essv7822913, essv7779526, essv7816502, essv7811186, essv7786439, essv7776107

Samples

NA18502, NA11830, NA18947, NA11829, NA18508, NA10851, NA18561, NA18507, NA11920, NA18603, NA12045, NA12751, NA18545, NA12004, NA19190, NA18870, NA18526, NA18510, NA12750, NA12155, NA07357, NA07346, NA18563, NA19005, NA18940, NA18550, NA12812, NA18960, NA18942, NA18916, NA11992, NA07347, NA18571, NA19138, NA18964, NA18949, NA12761, NA19137, NA12044, NA11994, NA19172, NA18520, NA12828, NA18973, NA18638, NA11993, NA11831, NA10847, NA18605, NA12489, NA12872, NA18956, NA18579, NA18871, NA18572, NA18948, NA18907, NA18537, NA18566, NA11894, NA11840, NA12892, NA18532, NA18853, NA19257, NA18555, NA19225, NA18570, NA18858, NA18593, NA18576, NA12043, NA11881, NA18961, NA19147, NA18517, NA18564, NA06986, NA19143, NA12749, NA18609, NA19129, NA07000, NA18522, NA18562, NA12776, NA18965

Known Genes

TMX1

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3305962

Frequency

Sample Size	185
Observed Gain	87
Observed Loss	0
Observed Complex	0
Frequency	n/a