Inversion Report: HsInv1052

Human Polymorphic Inversion DataBase

Inversion Report: HsInv1052

General information

Accession	HsInv1052	Region of the inversion	chr7:70031528-70106476
Status	Obsolete	Prediction type	Complex
Estimated Inversion Size	42,081 bp	Supporting predictions	7
Inverted allele frequency	ND	Mechanism of origin	ND
Functional effect	Intergenic breakpoints	Breakpoint 1	chr7:70031528-70066512
Ancestral orientation	NA	Breakpoint 2	chr7:70075724-70106476

- Region map

+ Predictions

- Ahn et al. 2009

Description	Next generation sequencing and analysis by paired-end mapping of a Korean individual genome
Method	Paired-end mapping (PEM)

Name

Breakpoint 1

chr7:70058658-70058907

Breakpoint 2

chr7:70076553-70076824

Individuals

SJK

Name

Breakpoint 1

chr7:70064132-70064343

Breakpoint 2

chr7:70076854-70077069

Individuals

SJK

- Wang et al. 2008

Description	Next-generation sequencing and analysis by paired-end mapping of a male Han Chinese individual genome
Method	Paired-end mapping (PEM)

Name
Breakpoint 1	chr7:70058865-70058865	Breakpoint 2	chr7:70076604-70076604
Individuals

- Levy et al. 2007

Description	Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef)
Method	Genome sequence comparison

Name

Breakpoint 1

chr7:70064121-70064121

Breakpoint 2

chr7:70076815-70076815

Individuals

HuRef

- Feuk et al. 2005

Description	Identification of human inversion polymorphisms by comparative analysis of human and chimpanzee genome sequence assemblies
Method	Genome sequence comparison

Name
Breakpoint 1	chr7:70058905-70058906	Breakpoint 2	chr7:70076823-70076824
Individuals

- Martinez-Fundichely et al. 2014 (in preparation)

Description	Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR
Method	Paired-end mapping (PEM)

Name

Breakpoint 1

chr7:70032007-70064629

Breakpoint 2

chr7:70076139-70106476

D/C Score

0.75

Disc. Support Prob.

0.02333

Individuals

NA12156	NA12878	NA15510	NA18507	NA18517	NA18555	NA18956	NA19129	NA19240

Name

Breakpoint 1

chr7:70031528-70066512

Breakpoint 2

chr7:70076380-70104763

D/C Score

0.26

Disc. Support Prob.

0.71097

Individuals

NA12156	NA12878	NA15510	NA18507	NA18517	NA18555	NA18956	NA19129	NA19240

+ Validation and genotyping

-Vicente-Salvador et al. 2017

Description

Validation and characterization of human inversions predicted by comparison of two independently assembled human genomes

Method	Polymerase chain reaction (PCR)
Status	Validated
Comment	Polymorphic inversion

Status
Force status
Comment

+ Validation details

+ Individuals:

+ Frequency without genotypes:

Please be aware that this information will be displayed in the Frequency section of the Inversion report, but the following will not be available: Hardy-Weinberg test and genotype file for download. Also, data will not be averaged with other studies of the same population.

Population
Analyzed individuals
Inverted alleles
Standard frequency
Inverted frequency

+ Manually curated breakpoints:

+ Frequency

+ Breakpoints

+ Evolutionary history

+ Functional effects

+ Report history

Hosted by the Comparative and Functional Genomics group at the Hospital del Mar Research Institute

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Breakpoint 1	chr7:70031528-70066512	Breakpoint 2	chr7:70075724-70106476
Description	Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint
Definition method	Default informatic definition
Mechanism of origin	ND

Ancestral allele	NA	Age	ND
Derived allele	NA	Origin	ND

Breakpoint 1	chr7:70031528-70066512	Breakpoint 2	chr7:70075724-70106476
Assembly	hg18
Description	Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint
Definition method	Default informatic definition