Variant Details

Variant: esv2354094

Internal ID

8025205

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:790015..790097	hg38	UCSC Ensembl
Outer	chr4:789747..790264	hg38	UCSC Ensembl
Inner	chr4:783803..783885	hg19	UCSC Ensembl
Outer	chr4:783535..784052	hg19	UCSC Ensembl
Inner	chr4:773803..773885	hg18	UCSC Ensembl
Outer	chr4:773535..774052	hg18	UCSC Ensembl

Cytoband

4p16.3

Allele length

Assembly	Allele length
hg38	518
hg19	518
hg18	518

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4962054

Samples

NA18507

Known Genes

CPLX1

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)

esv2354094

Frequency

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