Variant Details

Variant: essv4962327

Internal ID

7547959

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:26167835..26171359	hg38	UCSC Ensembl
Outer	chr18:26167675..26171524	hg38	UCSC Ensembl
Inner	chr18:23747799..23751323	hg19	UCSC Ensembl
Outer	chr18:23747639..23751488	hg19	UCSC Ensembl
Inner	chr18:22001797..22005321	hg18	UCSC Ensembl
Outer	chr18:22001637..22005486	hg18	UCSC Ensembl

Cytoband

18q11.2

Allele length

Assembly	Allele length
hg38	3850
hg19	3850
hg18	3850

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2119871

Supporting Variants

Samples

NA18507

Known Genes

PSMA8

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)

essv4962327

Frequency

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