Variant Details

Variant: essv4654989

Internal ID

6893935

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:69163015..69163327	hg38	UCSC Ensembl
Outer	chr9:69162835..69163529	hg38	UCSC Ensembl
Inner	chr9:71777931..71778243	hg19	UCSC Ensembl
Outer	chr9:71777751..71778445	hg19	UCSC Ensembl
Inner	chr9:70967751..70968063	hg18	UCSC Ensembl
Outer	chr9:70967571..70968265	hg18	UCSC Ensembl

Cytoband

9q21.11

Allele length

Assembly	Allele length
hg38	695
hg19	695
hg18	695

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1984160

Supporting Variants

Samples

NA18507

Known Genes

TJP2

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)

essv4654989

Frequency

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