Variant Details

Variant: essv4815337

Internal ID

7400969

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:222616991..222617263	hg38	UCSC Ensembl
Outer	chr2:222616795..222617468	hg38	UCSC Ensembl
Inner	chr2:223481710..223481982	hg19	UCSC Ensembl
Outer	chr2:223481514..223482187	hg19	UCSC Ensembl
Inner	chr2:223189954..223190226	hg18	UCSC Ensembl
Outer	chr2:223189758..223190431	hg18	UCSC Ensembl

Cytoband

2q36.1

Allele length

Assembly	Allele length
hg38	674
hg19	674
hg18	674

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2377277

Supporting Variants

Samples

NA18507

Known Genes

FARSB

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)

essv4815337

Frequency

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