Variant Details

Variant: esv2619780

Internal ID

8683338

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:43304257..43389971	hg38	UCSC Ensembl
Outer	chr17:43303844..43390199	hg38	UCSC Ensembl
Inner	chr17:41381606..41467339	hg19	UCSC Ensembl
Outer	chr17:41381193..41467567	hg19	UCSC Ensembl
Inner	chr17:38737132..38822865	hg18	UCSC Ensembl
Outer	chr17:38736719..38823093	hg18	UCSC Ensembl

Cytoband

17q21.31

Allele length

Assembly	Allele length
hg38	86356
hg19	86375
hg18	86375

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv16e197

Supporting Variants

essv5353786

Samples

NA18507

Known Genes

LINC00910

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)

esv2619780

Frequency

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