Variant Details

Variant: esv3436254

Internal ID

15283207

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr14:51252273..51252284	hg38	UCSC Ensembl
Inner	chr14:51252263..51252291	hg38	UCSC Ensembl
Outer	chr14:51252252..51252302	hg38	UCSC Ensembl
	chr14:51718991..51719002	hg19	UCSC Ensembl
Inner	chr14:51718981..51719009	hg19	UCSC Ensembl
Outer	chr14:51718970..51719020	hg19	UCSC Ensembl
	chr14:50788741..50788752	hg18	UCSC Ensembl
Inner	chr14:50788759..50788731	hg18	UCSC Ensembl
Outer	chr14:50788720..50788770	hg18	UCSC Ensembl

Cytoband

14q22.1

Allele length

Assembly	Allele length
hg38	289
hg19	289
hg18	289

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv8966009, essv8965986, essv8965988, essv8965962, essv8965936, essv8965961, essv8965964, essv8966017, essv8966011, essv8965958, essv8966014, essv8965945, essv8965999, essv8965954, essv8965946, essv8965998, essv8965965, essv8965940, essv8965980, essv8966016, essv8965991, essv8965939, essv8965951, essv8965994, essv8965975, essv8966013, essv8965968, essv8965984, essv8965934, essv8966005, essv8965985, essv8965982, essv8965967, essv8965943, essv8965953, essv8966007, essv8965972, essv8965942, essv8965996, essv8965978, essv8965938, essv8965969, essv8966019, essv8965960, essv8966020, essv8965957, essv8965944, essv8966008, essv8966021, essv8965950, essv8965955, essv8965933, essv8966010, essv8965990, essv8966001, essv8965977, essv8965956, essv8965993, essv8966018, essv8966002, essv8965987, essv8965963, essv8965979, essv8965997, essv8965971, essv8965983, essv8965935, essv8966023, essv8965947, essv8966006, essv8966022, essv8965949, essv8966012, essv8965941, essv8965952, essv8965995, essv8965989, essv8966000, essv8965966, essv8965976, essv8965974, essv8965973

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, NA18960, NA18942, NA18916, NA11992, NA07347, NA18571, NA19138, NA18964, NA18949, NA12761, NA19137, NA12044, NA11994, NA19172, NA18520, NA12828, NA18973, NA18638, NA11993, NA11831, NA10847, NA18605, NA12489, NA18956, NA18579, NA18871, NA18572, NA18948, NA18907, NA18537, NA18566, NA11894, NA18532, NA18853, NA19257, NA18555, NA19225, NA18570, NA18858, NA18593, NA18576, NA12043, NA11881, NA18961, NA19147, NA18517, NA18564, NA06986, NA12749, NA18609, NA19129, NA07000, NA18522, NA18562, NA12776, NA18965

Known Genes

TMX1

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3436254

Frequency

Sample Size	185
Observed Gain	82
Observed Loss	0
Observed Complex	0
Frequency	n/a