Variant Details

Variant: essv4503162

Internal ID

6742108

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:169189547..169189562	hg38	UCSC Ensembl
Outer	chr5:169189342..169189772	hg38	UCSC Ensembl
Inner	chr5:168616551..168616566	hg19	UCSC Ensembl
Outer	chr5:168616346..168616776	hg19	UCSC Ensembl
Inner	chr5:168549129..168549144	hg18	UCSC Ensembl
Outer	chr5:168548924..168549354	hg18	UCSC Ensembl

Cytoband

5q35.1

Allele length

Assembly	Allele length
hg38	431
hg19	431
hg18	431

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2391131

Supporting Variants

Samples

NA18507

Known Genes

SLIT3

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)

essv4503162

Frequency

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