Variant Details

Variant: essv4719118

Internal ID

6958064

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:6055425..6055904	hg38	UCSC Ensembl
Outer	chr10:6055216..6056108	hg38	UCSC Ensembl
Inner	chr10:6097388..6097867	hg19	UCSC Ensembl
Outer	chr10:6097179..6098071	hg19	UCSC Ensembl
Inner	chr10:6137394..6137873	hg18	UCSC Ensembl
Outer	chr10:6137185..6138077	hg18	UCSC Ensembl

Cytoband

10p15.1

Allele length

Assembly	Allele length
hg38	893
hg19	893
hg18	893

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2014648

Supporting Variants

Samples

NA18507

Known Genes

IL2RA

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)

essv4719118

Frequency

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