Variant Details

Variant: essv4548999

Internal ID

6787945

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:152348823..152349134	hg38	UCSC Ensembl
Outer	chr2:152348618..152349341	hg38	UCSC Ensembl
Inner	chr2:153205337..153205648	hg19	UCSC Ensembl
Outer	chr2:153205132..153205855	hg19	UCSC Ensembl
Inner	chr2:152913583..152913894	hg18	UCSC Ensembl
Outer	chr2:152913378..152914101	hg18	UCSC Ensembl

Cytoband

2q23.3

Allele length

Assembly	Allele length
hg38	724
hg19	724
hg18	724

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1998324

Supporting Variants

Samples

NA18507

Known Genes

FMNL2

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)

essv4548999

Frequency

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