Variant Details

Variant: essv4813483

Internal ID

7052429

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:112398037..112398363	hg38	UCSC Ensembl
Outer	chr10:112397846..112398553	hg38	UCSC Ensembl
Inner	chr10:114157795..114158121	hg19	UCSC Ensembl
Outer	chr10:114157604..114158311	hg19	UCSC Ensembl
Inner	chr10:114147785..114148111	hg18	UCSC Ensembl
Outer	chr10:114147594..114148301	hg18	UCSC Ensembl

Cytoband

10q25.2

Allele length

Assembly	Allele length
hg38	708
hg19	708
hg18	708

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2190783

Supporting Variants

Samples

NA18507

Known Genes

ACSL5

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)

essv4813483

Frequency

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