Variant Details

Variant: esv2273213

Internal ID

7944325

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:16332316..16332439	hg38	UCSC Ensembl
Outer	chr9:16332154..16332608	hg38	UCSC Ensembl
Inner	chr9:16332314..16332437	hg19	UCSC Ensembl
Outer	chr9:16332152..16332606	hg19	UCSC Ensembl
Inner	chr9:16322314..16322437	hg18	UCSC Ensembl
Outer	chr9:16322152..16322606	hg18	UCSC Ensembl

Cytoband

9p22.3

Allele length

Assembly	Allele length
hg38	455
hg19	455
hg18	455

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4556561

Samples

NA18507

Known Genes

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)

esv2273213

Frequency

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