Variant Details

Variant: essv4905235

Internal ID

7490867

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:22057935..22058082	hg38	UCSC Ensembl
Outer	chr9:22057808..22058180	hg38	UCSC Ensembl
Inner	chr9:22057934..22058081	hg19	UCSC Ensembl
Outer	chr9:22057807..22058179	hg19	UCSC Ensembl
Inner	chr9:22047934..22048081	hg18	UCSC Ensembl
Outer	chr9:22047807..22048179	hg18	UCSC Ensembl

Cytoband

9p21.3

Allele length

Assembly	Allele length
hg38	373
hg19	373
hg18	373

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1998859

Supporting Variants

Samples

NA18507

Known Genes

CDKN2B-AS1

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)

essv4905235

Frequency

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