Variant Details

Variant: essv4606853

Internal ID

7192485

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:79818768..79818925	hg38	UCSC Ensembl
Outer	chr5:79818657..79819056	hg38	UCSC Ensembl
Inner	chr5:79114591..79114748	hg19	UCSC Ensembl
Outer	chr5:79114480..79114879	hg19	UCSC Ensembl
Inner	chr5:79150347..79150504	hg18	UCSC Ensembl
Outer	chr5:79150236..79150635	hg18	UCSC Ensembl

Cytoband

5q14.1

Allele length

Assembly	Allele length
hg38	400
hg19	400
hg18	400

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1919523

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4606853

Frequency

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