Variant Details

Variant: esv2192183

Internal ID

7863295

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:45789562..45789615	hg38	UCSC Ensembl
Outer	chr3:45789376..45789784	hg38	UCSC Ensembl
Inner	chr3:45831054..45831107	hg19	UCSC Ensembl
Outer	chr3:45830868..45831276	hg19	UCSC Ensembl
Inner	chr3:45806058..45806111	hg18	UCSC Ensembl
Outer	chr3:45805872..45806280	hg18	UCSC Ensembl

Cytoband

3p21.31

Allele length

Assembly	Allele length
hg38	409
hg19	409
hg18	409

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4786536

Samples

NA18507

Known Genes

SLC6A20

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)

esv2192183

Frequency

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