Variant Details

Variant: esv2620874

Internal ID

8684432

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:239952715..239953271	hg38	UCSC Ensembl
Outer	chr1:239952660..239953569	hg38	UCSC Ensembl
Inner	chr1:240116015..240116571	hg19	UCSC Ensembl
Outer	chr1:240115960..240116869	hg19	UCSC Ensembl
Inner	chr1:238182638..238183194	hg18	UCSC Ensembl
Outer	chr1:238182583..238183492	hg18	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	910
hg19	910
hg18	910

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5192765

Samples

NA18507

Known Genes

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)

esv2620874

Frequency

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