Variant Details

Variant: essv4629145

Internal ID

7214777

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:22163146..22163227	hg38	UCSC Ensembl
Outer	chr7:22162936..22163442	hg38	UCSC Ensembl
Inner	chr7:22202764..22202845	hg19	UCSC Ensembl
Outer	chr7:22202554..22203060	hg19	UCSC Ensembl
Inner	chr7:22169289..22169370	hg18	UCSC Ensembl
Outer	chr7:22169079..22169585	hg18	UCSC Ensembl

Cytoband

7p15.3

Allele length

Assembly	Allele length
hg38	507
hg19	507
hg18	507

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2333221

Supporting Variants

Samples

NA18507

Known Genes

RAPGEF5

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)

essv4629145

Frequency

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