Variant Details

Variant: esv2162646

Internal ID

7487071

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:9950667..9950926	hg38	UCSC Ensembl
Outer	chr4:9950484..9951087	hg38	UCSC Ensembl
Inner	chr4:9952291..9952550	hg19	UCSC Ensembl
Outer	chr4:9952108..9952711	hg19	UCSC Ensembl
Inner	chr4:9561389..9561648	hg18	UCSC Ensembl
Outer	chr4:9561206..9561809	hg18	UCSC Ensembl

Cytoband

4p16.1

Allele length

Assembly	Allele length
hg38	604
hg19	604
hg18	604

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4888682

Samples

NA18507

Known Genes

SLC2A9

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)

esv2162646

Frequency

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