Variant Details

Variant: essv4973068

Internal ID

7212014

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:86995305..86995539	hg38	UCSC Ensembl
Outer	chr9:86995253..86995609	hg38	UCSC Ensembl
Inner	chr9:89610220..89610454	hg19	UCSC Ensembl
Outer	chr9:89610168..89610524	hg19	UCSC Ensembl
Inner	chr9:88800040..88800274	hg18	UCSC Ensembl
Outer	chr9:88799988..88800344	hg18	UCSC Ensembl

Cytoband

9q21.33

Allele length

Assembly	Allele length
hg38	357
hg19	357
hg18	357

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2233205

Supporting Variants

Samples

NA18507

Known Genes

LOC100506834

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)

essv4973068

Frequency

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