Variant Details

Variant: esv3436877

Internal ID

15283830

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr3:45501158..45501170	hg38	UCSC Ensembl
Inner	chr3:45501149..45501179	hg38	UCSC Ensembl
Outer	chr3:45501137..45501191	hg38	UCSC Ensembl
	chr3:45542650..45542662	hg19	UCSC Ensembl
Inner	chr3:45542641..45542671	hg19	UCSC Ensembl
Outer	chr3:45542629..45542683	hg19	UCSC Ensembl
	chr3:45517654..45517666	hg18	UCSC Ensembl
Inner	chr3:45517675..45517645	hg18	UCSC Ensembl
Outer	chr3:45517633..45517687	hg18	UCSC Ensembl

Cytoband

3p21.31

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

essv8913000, essv8912996, essv8912971, essv8913023, essv8913030, essv8913011, essv8912967, essv8912998, essv8913052, essv8913015, essv8913020, essv8913046, essv8912995, essv8913006, essv8913010, essv8912994, essv8912975, essv8913031, essv8912988, essv8912992, essv8912981, essv8913057, essv8913024, essv8912968, essv8913008, essv8912993, essv8913012, essv8912982, essv8912970, essv8913022, essv8913038, essv8912973, essv8913009, essv8913007, essv8913027, essv8913019, essv8913059, essv8913016, essv8913051, essv8912997, essv8913034, essv8913033, essv8913004, essv8913035, essv8913005, essv8912984, essv8913037, essv8913040, essv8913013, essv8912989, essv8912977, essv8913028, essv8913050, essv8913044, essv8913055, essv8912990, essv8913056, essv8913039, essv8913053, essv8913043, essv8913017, essv8912974, essv8912979, essv8912999, essv8912972, essv8912976, essv8912983, essv8912986, essv8913001, essv8913054, essv8913045, essv8913026, essv8913029, essv8913042, essv8913041, essv8913032, essv8913018, essv8913021, essv8912978, essv8912987, essv8912985, essv8913048, essv8913049

Samples

NA12717, NA11830, NA18947, NA11995, NA18592, NA10851, NA18561, NA11920, NA11931, NA18603, NA12751, NA18545, NA12004, NA18959, NA18526, NA12750, NA12155, NA07357, NA07346, NA18563, NA19005, NA18944, NA18940, NA18550, NA18558, NA18960, NA18942, NA11992, NA07347, NA18582, NA12287, NA18964, NA18949, NA12156, NA12044, NA11994, NA18973, NA18638, NA11993, NA11831, NA18605, NA12489, NA12003, NA18956, NA18572, NA18948, NA18907, NA18537, NA18566, NA18573, NA18499, NA18856, NA12249, NA18555, NA12144, NA18570, NA18593, NA18945, NA18576, NA12043, NA18542, NA12716, NA19108, NA18961, NA18952, NA19147, NA18564, NA07051, NA18943, NA07037, NA12763, NA06986, NA12749, NA19093, NA18609, NA18552, NA12006, NA07000, NA12154, NA18562, NA12776, NA18965, NA18577

Known Genes

LARS2, LARS2-AS1

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3436877

Frequency

Sample Size	185
Observed Gain	83
Observed Loss	0
Observed Complex	0
Frequency	n/a