Variant Details

Variant: esv1966921

Internal ID

7291346

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:120494758..120497451	hg38	UCSC Ensembl
Outer	chr9:120494561..120497651	hg38	UCSC Ensembl
Inner	chr9:123257036..123259729	hg19	UCSC Ensembl
Outer	chr9:123256839..123259929	hg19	UCSC Ensembl
Inner	chr9:122296857..122299550	hg18	UCSC Ensembl
Outer	chr9:122296660..122299750	hg18	UCSC Ensembl

Cytoband

9q33.2

Allele length

Assembly	Allele length
hg38	3091
hg19	3091
hg18	3091

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4762008

Samples

NA18507

Known Genes

CDK5RAP2

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)

esv1966921

Frequency

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