Variant Details

Variant: esv2309169

Internal ID

7980280

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:58981475..58981525	hg38	UCSC Ensembl
Outer	chr5:58981291..58981709	hg38	UCSC Ensembl
Inner	chr5:58277302..58277352	hg19	UCSC Ensembl
Outer	chr5:58277118..58277536	hg19	UCSC Ensembl
Inner	chr5:58313059..58313109	hg18	UCSC Ensembl
Outer	chr5:58312875..58313293	hg18	UCSC Ensembl

Cytoband

5q11.2

Allele length

Assembly	Allele length
hg38	419
hg19	419
hg18	419

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4974658

Samples

NA18507

Known Genes

PDE4D

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)

esv2309169

Frequency

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