Variant Details

Variant: essv5234776

Internal ID

8326511

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:31506033..31527604	hg38	UCSC Ensembl
Outer	chr1:31498644..31528029	hg38	UCSC Ensembl
Inner	chr1:31971633..31993205	hg19	UCSC Ensembl
Outer	chr1:31971485..31993630	hg19	UCSC Ensembl
Inner	chr1:31744220..31765792	hg18	UCSC Ensembl
Outer	chr1:31744072..31766217	hg18	UCSC Ensembl

Cytoband

1p35.2

Allele length

Assembly	Allele length
hg38	29386
hg19	22146
hg18	22146

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2559743

Supporting Variants

Samples

NA18507

Known Genes

LOC149086, LOC284551

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)

essv5234776

Frequency

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