Variant Details

Variant: essv4539963

Internal ID

7125595

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:19551203..19551294	hg38	UCSC Ensembl
Outer	chr22:19551026..19551478	hg38	UCSC Ensembl
Inner	chr22:19538726..19538817	hg19	UCSC Ensembl
Outer	chr22:19538549..19539001	hg19	UCSC Ensembl
Inner	chr22:17918726..17918817	hg18	UCSC Ensembl
Outer	chr22:17918549..17919001	hg18	UCSC Ensembl

Cytoband

22q11.21

Allele length

Assembly	Allele length
hg38	453
hg19	453
hg18	453

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2097408

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)

essv4539963

Frequency

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