Variant Details

Variant: essv4541793

Internal ID

6780739

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:58335564..58335622	hg38	UCSC Ensembl
Outer	chr3:58335354..58335824	hg38	UCSC Ensembl
Inner	chr3:58321291..58321349	hg19	UCSC Ensembl
Outer	chr3:58321081..58321551	hg19	UCSC Ensembl
Inner	chr3:58296331..58296389	hg18	UCSC Ensembl
Outer	chr3:58296121..58296591	hg18	UCSC Ensembl

Cytoband

3p14.3

Allele length

Assembly	Allele length
hg38	471
hg19	471
hg18	471

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2337145

Supporting Variants

Samples

NA18507

Known Genes

PXK

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)

essv4541793

Frequency

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