Variant Details

Variant: essv4537775

Internal ID

7123407

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:171430505..171430847	hg38	UCSC Ensembl
Outer	chr5:171430361..171431018	hg38	UCSC Ensembl
Inner	chr5:170857509..170857851	hg19	UCSC Ensembl
Outer	chr5:170857365..170858022	hg19	UCSC Ensembl
Inner	chr5:170790114..170790456	hg18	UCSC Ensembl
Outer	chr5:170789970..170790627	hg18	UCSC Ensembl

Cytoband

5q35.1

Allele length

Assembly	Allele length
hg38	658
hg19	658
hg18	658

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2412659

Supporting Variants

Samples

NA18507

Known Genes

FGF18

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)

essv4537775

Frequency

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