Variant Details

Variant: essv4509040

Internal ID

6747986

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:287622..289895	hg38	UCSC Ensembl
Outer	chr3:287542..289938	hg38	UCSC Ensembl
Inner	chr3:329305..331578	hg19	UCSC Ensembl
Outer	chr3:329225..331621	hg19	UCSC Ensembl
Inner	chr3:304305..306578	hg18	UCSC Ensembl
Outer	chr3:304225..306621	hg18	UCSC Ensembl

Cytoband

3p26.3

Allele length

Assembly	Allele length
hg38	2397
hg19	2397
hg18	2397

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1945808

Supporting Variants

Samples

NA18507

Known Genes

CHL1

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)

essv4509040

Frequency

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