Variant Details

Variant: esv2080567

Internal ID

7751678

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:78361904..78362237	hg38	UCSC Ensembl
Outer	chr14:78361713..78362448	hg38	UCSC Ensembl
Inner	chr14:78828247..78828580	hg19	UCSC Ensembl
Outer	chr14:78828056..78828791	hg19	UCSC Ensembl
Inner	chr14:77898000..77898333	hg18	UCSC Ensembl
Outer	chr14:77897809..77898544	hg18	UCSC Ensembl

Cytoband

14q24.3

Allele length

Assembly	Allele length
hg38	736
hg19	736
hg18	736

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4615836

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)

esv2080567

Frequency

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