Variant Details

Variant: esv2505200

Internal ID

8568758

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:46381084..46392458	hg38	UCSC Ensembl
Outer	chr16:46381084..46392463	hg38	UCSC Ensembl
Inner	chr16:46413874..46426370	hg19	UCSC Ensembl
Outer	chr16:46413761..46426375	hg19	UCSC Ensembl
Inner	chr16:44971375..44983871	hg18	UCSC Ensembl
Outer	chr16:44971262..44983876	hg18	UCSC Ensembl

Cytoband

16q11.2

Allele length

Assembly	Allele length
hg38	11380
hg19	12615
hg18	12615

Variant Type

OTHER inversion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5297375

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)

esv2505200

Frequency

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