Variant Details

Variant: esv2145090

Internal ID

7469515

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:6730324..6730630	hg38	UCSC Ensembl
Outer	chr8:6730129..6730832	hg38	UCSC Ensembl
Inner	chr8:6587845..6588151	hg19	UCSC Ensembl
Outer	chr8:6587650..6588353	hg19	UCSC Ensembl
Inner	chr8:6575253..6575559	hg18	UCSC Ensembl
Outer	chr8:6575058..6575761	hg18	UCSC Ensembl

Cytoband

8p23.1

Allele length

Assembly	Allele length
hg38	704
hg19	704
hg18	704

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4901798

Samples

NA18507

Known Genes

AGPAT5

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)

esv2145090

Frequency

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