Variant Details

Variant: esv2600447

Internal ID

8664005

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:43593582..43594287	hg38	UCSC Ensembl
Outer	chr1:43593553..43594333	hg38	UCSC Ensembl
Inner	chr1:44059253..44059958	hg19	UCSC Ensembl
Outer	chr1:44059224..44060004	hg19	UCSC Ensembl
Inner	chr1:43831840..43832545	hg18	UCSC Ensembl
Outer	chr1:43831811..43832591	hg18	UCSC Ensembl

Cytoband

1p34.2

Allele length

Assembly	Allele length
hg38	781
hg19	781
hg18	781

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5210869

Samples

NA18507

Known Genes

PTPRF

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)

esv2600447

Frequency

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