Variant Details

Variant: essv4584008

Internal ID

7169640

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:4050026..4050323	hg38	UCSC Ensembl
Outer	chr6:4049806..4050539	hg38	UCSC Ensembl
Inner	chr6:4050260..4050557	hg19	UCSC Ensembl
Outer	chr6:4050040..4050773	hg19	UCSC Ensembl
Inner	chr6:3995259..3995556	hg18	UCSC Ensembl
Outer	chr6:3995039..3995772	hg18	UCSC Ensembl

Cytoband

6p25.2

Allele length

Assembly	Allele length
hg38	734
hg19	734
hg18	734

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2201190

Supporting Variants

Samples

NA18507

Known Genes

PRPF4B

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)

essv4584008

Frequency

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