Variant Details

Variant: essv4908068

Internal ID

7493700

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:39653055..39653142	hg38	UCSC Ensembl
Outer	chr22:39652901..39653289	hg38	UCSC Ensembl
Inner	chr22:40049060..40049147	hg19	UCSC Ensembl
Outer	chr22:40048906..40049294	hg19	UCSC Ensembl
Inner	chr22:38379006..38379093	hg18	UCSC Ensembl
Outer	chr22:38378852..38379240	hg18	UCSC Ensembl

Cytoband

22q13.1

Allele length

Assembly	Allele length
hg38	389
hg19	389
hg18	389

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2086990

Supporting Variants

Samples

NA18507

Known Genes

CACNA1I

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)

essv4908068

Frequency

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