Variant Details

Variant: essv4643630

Internal ID

6882576

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:137879162..137882790	hg38	UCSC Ensembl
Outer	chr9:137879054..137882940	hg38	UCSC Ensembl
Inner	chr9:140773614..140777242	hg19	UCSC Ensembl
Outer	chr9:140773506..140777392	hg19	UCSC Ensembl
Inner	chr9:139893435..139897063	hg18	UCSC Ensembl
Outer	chr9:139893327..139897213	hg18	UCSC Ensembl

Cytoband

9q34.3

Allele length

Assembly	Allele length
hg38	3887
hg19	3887
hg18	3887

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2073604

Supporting Variants

Samples

NA18507

Known Genes

CACNA1B

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)

essv4643630

Frequency

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