Variant Details

Variant: esv2030052

Internal ID

7354477

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:129018313..129020041	hg38	UCSC Ensembl
Outer	chr9:129018236..129020111	hg38	UCSC Ensembl
Inner	chr9:131780592..131782320	hg19	UCSC Ensembl
Outer	chr9:131780515..131782390	hg19	UCSC Ensembl
Inner	chr9:130820413..130822141	hg18	UCSC Ensembl
Outer	chr9:130820336..130822211	hg18	UCSC Ensembl

Cytoband

9q34.11

Allele length

Assembly	Allele length
hg38	1876
hg19	1876
hg18	1876

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4758102

Samples

NA18507

Known Genes

SH3GLB2

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)

esv2030052

Frequency

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