Variant Details

Variant: essv4531868

Internal ID

6770814

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:8393301..8393492	hg38	UCSC Ensembl
Outer	chr4:8393160..8393628	hg38	UCSC Ensembl
Inner	chr4:8395028..8395219	hg19	UCSC Ensembl
Outer	chr4:8394887..8395355	hg19	UCSC Ensembl
Inner	chr4:8445928..8446119	hg18	UCSC Ensembl
Outer	chr4:8445787..8446255	hg18	UCSC Ensembl

Cytoband

4p16.1

Allele length

Assembly	Allele length
hg38	469
hg19	469
hg18	469

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2148081

Supporting Variants

Samples

NA18507

Known Genes

ACOX3

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)

essv4531868

Frequency

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