Variant Details

Variant: esv2471749

Internal ID

8188621

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:2553995..2567688	hg38	UCSC Ensembl
Outer	chr1:2553995..2567688	hg38	UCSC Ensembl
Inner	chr1:2485434..2499127	hg19	UCSC Ensembl
Outer	chr1:2485434..2499127	hg19	UCSC Ensembl
Inner	chr1:2475121..2489164	hg18	UCSC Ensembl
Outer	chr1:2473764..2490238	hg18	UCSC Ensembl

Cytoband

1p36.32

Allele length

Assembly	Allele length
hg38	13694
hg19	13694
hg18	16475

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5165573

Samples

NA18507

Known Genes

LOC100133445, LOC115110, TNFRSF14

Method

Sequencing

Analysis

Inversions are detected using the AB Inversion Tool. When one end of a mate pair maps to the opposite strand of the other, the pair provides evidence of an inversion. Multiple instances in the same area will be a positive call.

Platform

Not specified

Comments

originalFile=Yoruban_inv.gff

Reference

McKernan_et_al_2009

Pubmed ID

19546169

Accession Number(s)

esv2471749

Frequency

Sample Size	1
Observed Gain	0
Observed Loss	0
Observed Complex	0
Frequency	n/a