Variant Details

Variant: essv5222304

Internal ID

8314039

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:44318404..44318633	hg38	UCSC Ensembl
Outer	chr2:44318132..44319161	hg38	UCSC Ensembl
Inner	chr2:44545543..44545772	hg19	UCSC Ensembl
Outer	chr2:44545271..44546300	hg19	UCSC Ensembl
Inner	chr2:44399047..44399276	hg18	UCSC Ensembl
Outer	chr2:44398775..44399804	hg18	UCSC Ensembl

Cytoband

2p21

Allele length

Assembly	Allele length
hg38	1030
hg19	1030
hg18	1030

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2538552

Supporting Variants

Samples

NA18507

Known Genes

PREPL, SLC3A1

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)

essv5222304

Frequency

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