Variant Details

Variant: essv4810650

Internal ID

7396282

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:21484354..21486501	hg38	UCSC Ensembl
Outer	chr14:21484280..21486577	hg38	UCSC Ensembl
Inner	chr14:21952513..21954660	hg19	UCSC Ensembl
Outer	chr14:21952439..21954736	hg19	UCSC Ensembl
Inner	chr14:21022353..21024500	hg18	UCSC Ensembl
Outer	chr14:21022279..21024576	hg18	UCSC Ensembl

Cytoband

14q11.2

Allele length

Assembly	Allele length
hg38	2298
hg19	2298
hg18	2298

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2080110

Supporting Variants

Samples

NA18507

Known Genes

TOX4

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)

essv4810650

Frequency

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