Variant Details

Variant: essv4540605

Internal ID

7126237

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:79187602..79187681	hg38	UCSC Ensembl
Outer	chr14:79187391..79187886	hg38	UCSC Ensembl
Inner	chr14:79653945..79654024	hg19	UCSC Ensembl
Outer	chr14:79653734..79654229	hg19	UCSC Ensembl
Inner	chr14:78723698..78723777	hg18	UCSC Ensembl
Outer	chr14:78723487..78723982	hg18	UCSC Ensembl

Cytoband

14q31.1

Allele length

Assembly	Allele length
hg38	496
hg19	496
hg18	496

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1996512

Supporting Variants

Samples

NA18507

Known Genes

NRXN3

Method

Sequencing

Analysis

Hierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.

Platform

Not specified

Comments

Reference

Bentley_et_al_2008

Pubmed ID

18987734

Accession Number(s)

essv4540605

Frequency

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