Variant Details

Variant: essv5001612

Internal ID

7240558

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:110067875..110068647	hg38	UCSC Ensembl
Outer	chr9:110067755..110068737	hg38	UCSC Ensembl
Inner	chr9:112830155..112830927	hg19	UCSC Ensembl
Outer	chr9:112830035..112831017	hg19	UCSC Ensembl
Inner	chr9:111869976..111870748	hg18	UCSC Ensembl
Outer	chr9:111869856..111870838	hg18	UCSC Ensembl

Cytoband

9q31.3

Allele length

Assembly	Allele length
hg38	983
hg19	983
hg18	983

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2195369

Supporting Variants

Samples

NA18507

Known Genes

AKAP2, PALM2-AKAP2

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)

essv5001612

Frequency

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