Variant Details

Variant: essv4504837

Internal ID

7090469

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:109667935..109668245	hg38	UCSC Ensembl
Outer	chr9:109667743..109668425	hg38	UCSC Ensembl
Inner	chr9:112430215..112430525	hg19	UCSC Ensembl
Outer	chr9:112430023..112430705	hg19	UCSC Ensembl
Inner	chr9:111470036..111470346	hg18	UCSC Ensembl
Outer	chr9:111469844..111470526	hg18	UCSC Ensembl

Cytoband

9q31.3

Allele length

Assembly	Allele length
hg38	683
hg19	683
hg18	683

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1922439

Supporting Variants

Samples

NA18507

Known Genes

PALM2

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)

essv4504837

Frequency

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