Variant Details

Variant: esv1936194

Internal ID

7260619

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:41411861..41411963	hg38	UCSC Ensembl
Outer	chr5:41411679..41412124	hg38	UCSC Ensembl
Inner	chr5:41411963..41412065	hg19	UCSC Ensembl
Outer	chr5:41411781..41412226	hg19	UCSC Ensembl
Inner	chr5:41447720..41447822	hg18	UCSC Ensembl
Outer	chr5:41447538..41447983	hg18	UCSC Ensembl

Cytoband

5p13.1

Allele length

Assembly	Allele length
hg38	446
hg19	446
hg18	446

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4968111

Samples

NA18507

Known Genes

PLCXD3

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)

esv1936194

Frequency

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