Variant Details

Variant: esv2451120

Internal ID

8514678

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:55765285..55816344	hg38	UCSC Ensembl
Outer	chr16:55764951..55816465	hg38	UCSC Ensembl
Inner	chr16:55799197..55850256	hg19	UCSC Ensembl
Outer	chr16:55798863..55850377	hg19	UCSC Ensembl
Inner	chr16:54356698..54407757	hg18	UCSC Ensembl
Outer	chr16:54356364..54407878	hg18	UCSC Ensembl

Cytoband

16q12.2

Allele length

Assembly	Allele length
hg38	51515
hg19	51515
hg18	51515

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv15e197

Supporting Variants

essv5244668

Samples

NA18507

Known Genes

CES1, CES1P1

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)

esv2451120

Frequency

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