Variant Details

Variant: esv2390401

Internal ID

8061512

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:134760352..134760534	hg38	UCSC Ensembl
Outer	chr9:134760238..134760609	hg38	UCSC Ensembl
Inner	chr9:137652198..137652380	hg19	UCSC Ensembl
Outer	chr9:137652084..137652455	hg19	UCSC Ensembl
Inner	chr9:136792019..136792201	hg18	UCSC Ensembl
Outer	chr9:136791905..136792276	hg18	UCSC Ensembl

Cytoband

9q34.3

Allele length

Assembly	Allele length
hg38	372
hg19	372
hg18	372

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4699993

Samples

NA18507

Known Genes

COL5A1

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)

esv2390401

Frequency

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