Variant Details

Variant: esv2121214

Internal ID

7445639

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:33673845..33673964	hg38	UCSC Ensembl
Outer	chr22:33673671..33674161	hg38	UCSC Ensembl
Inner	chr22:34069831..34069950	hg19	UCSC Ensembl
Outer	chr22:34069657..34070147	hg19	UCSC Ensembl
Inner	chr22:32399831..32399950	hg18	UCSC Ensembl
Outer	chr22:32399657..32400147	hg18	UCSC Ensembl

Cytoband

22q12.3

Allele length

Assembly	Allele length
hg38	491
hg19	491
hg18	491

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4674561

Samples

NA18507

Known Genes

LARGE

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)

esv2121214

Frequency

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