Variant Details

Variant: esv3387276

Internal ID

14887558

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:107599839..107599845	hg38	UCSC Ensembl
Inner	chr1:107599831..107599853	hg38	UCSC Ensembl
Outer	chr1:107599825..107599857	hg38	UCSC Ensembl
	chr1:108142461..108142467	hg19	UCSC Ensembl
Inner	chr1:108142453..108142475	hg19	UCSC Ensembl
Outer	chr1:108142447..108142479	hg19	UCSC Ensembl
	chr1:107943984..107943990	hg18	UCSC Ensembl
Inner	chr1:107943998..107943976	hg18	UCSC Ensembl
Outer	chr1:107943970..107944002	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	276
hg19	276
hg18	276

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv8900873, essv8900887, essv8900919, essv8900868, essv8900918, essv8900886, essv8900881, essv8900899, essv8900898, essv8900917, essv8900922, essv8900905, essv8900885, essv8900931, essv8900910, essv8900930, essv8900877, essv8900928, essv8900900, essv8900882, essv8900913, essv8900920, essv8900870, essv8900932, essv8900904, essv8900911, essv8900909, essv8900901, essv8900939, essv8900924, essv8900897, essv8900937, essv8900875, essv8900883, essv8900893, essv8900871, essv8900912, essv8900888, essv8900934, essv8900933, essv8900940, essv8900926, essv8900874, essv8900927, essv8900889, essv8900941, essv8900938, essv8900884, essv8900916, essv8900890, essv8900902, essv8900923, essv8900878, essv8900872, essv8900929, essv8900906, essv8900915, essv8900896, essv8900879, essv8900907, essv8900921, essv8900894, essv8900895, essv8900908, essv8900876, essv8900935

Samples

NA12717, NA11830, NA18947, NA18861, NA10851, NA18561, NA11931, NA18603, NA12045, NA12004, NA18504, NA18870, NA12750, NA07357, NA18563, NA18944, NA18940, NA18550, NA18519, NA18489, NA18558, NA18916, NA11992, NA11918, NA07347, NA18582, NA19138, NA18964, NA18949, NA12156, NA12044, NA11994, NA19172, NA18973, NA11831, NA10847, NA18956, NA18871, NA18907, NA18537, NA19114, NA11894, NA12249, NA18555, NA12144, NA18523, NA18570, NA18576, NA12043, NA18542, NA12716, NA11881, NA19147, NA07051, NA18943, NA06986, NA18501, NA12749, NA18609, NA19102, NA18505, NA07000, NA18522, NA12154, NA18562, NA18965

Known Genes

VAV3

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3387276

Frequency

Sample Size	185
Observed Gain	66
Observed Loss	0
Observed Complex	0
Frequency	n/a