Variant Details

Variant: essv4754241

Internal ID

6993187

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:11826266..11826353	hg38	UCSC Ensembl
Outer	chr18:11826060..11826556	hg38	UCSC Ensembl
Inner	chr18:11826265..11826352	hg19	UCSC Ensembl
Outer	chr18:11826059..11826555	hg19	UCSC Ensembl
Inner	chr18:11816265..11816352	hg18	UCSC Ensembl
Outer	chr18:11816059..11816555	hg18	UCSC Ensembl

Cytoband

18p11.21

Allele length

Assembly	Allele length
hg38	497
hg19	497
hg18	497

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2115144

Supporting Variants

Samples

NA18507

Known Genes

GNAL

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)

essv4754241

Frequency

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