Variant Details

Variant: esv2504659

Internal ID

8568217

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:75206221..75222703	hg38	UCSC Ensembl
Outer	chr16:75204575..75223313	hg38	UCSC Ensembl
Inner	chr16:75240119..75256601	hg19	UCSC Ensembl
Outer	chr16:75238473..75257211	hg19	UCSC Ensembl
Inner	chr16:73797620..73814102	hg18	UCSC Ensembl
Outer	chr16:73795974..73814712	hg18	UCSC Ensembl

Cytoband

16q23.1

Allele length

Assembly	Allele length
hg38	18739
hg19	18739
hg18	18739

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5384959

Samples

NA18507

Known Genes

CTRB1, CTRB2

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)

esv2504659

Frequency

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