Variant Details

Variant: essv4664473

Internal ID

7250105

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:111359199..111359592	hg38	UCSC Ensembl
Outer	chr5:111359102..111359687	hg38	UCSC Ensembl
Inner	chr5:110694897..110695290	hg19	UCSC Ensembl
Outer	chr5:110694800..110695385	hg19	UCSC Ensembl
Inner	chr5:110722796..110723189	hg18	UCSC Ensembl
Outer	chr5:110722699..110723284	hg18	UCSC Ensembl

Cytoband

5q22.1

Allele length

Assembly	Allele length
hg38	586
hg19	586
hg18	586

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2313843

Supporting Variants

Samples

NA18507

Known Genes

CAMK4

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)

essv4664473

Frequency

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