Variant Details

Variant: essv4787669

Internal ID

7373301

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:174787505..174787685	hg38	UCSC Ensembl
Outer	chr4:174787398..174787789	hg38	UCSC Ensembl
Inner	chr4:175708656..175708836	hg19	UCSC Ensembl
Outer	chr4:175708549..175708940	hg19	UCSC Ensembl
Inner	chr4:175945231..175945411	hg18	UCSC Ensembl
Outer	chr4:175945124..175945515	hg18	UCSC Ensembl

Cytoband

4q34.1

Allele length

Assembly	Allele length
hg38	392
hg19	392
hg18	392

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1917201

Supporting Variants

Samples

NA18507

Known Genes

GLRA3

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)

essv4787669

Frequency

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