Variant Details

Variant: esv2368023

Internal ID

8039134

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:45587265..45587422	hg38	UCSC Ensembl
Outer	chr22:45587124..45587561	hg38	UCSC Ensembl
Inner	chr22:45983145..45983302	hg19	UCSC Ensembl
Outer	chr22:45983004..45983441	hg19	UCSC Ensembl
Inner	chr22:44361809..44361966	hg18	UCSC Ensembl
Outer	chr22:44361668..44362105	hg18	UCSC Ensembl

Cytoband

22q13.31

Allele length

Assembly	Allele length
hg38	438
hg19	438
hg18	438

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4590785

Samples

NA18507

Known Genes

FBLN1

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)

esv2368023

Frequency

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