Variant Details

Variant: esv2350180

Internal ID

8021292

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:101763907..101763918	hg38	UCSC Ensembl
Outer	chr3:101763697..101764126	hg38	UCSC Ensembl
Inner	chr3:101482751..101482762	hg19	UCSC Ensembl
Outer	chr3:101482541..101482970	hg19	UCSC Ensembl
Inner	chr3:102965441..102965452	hg18	UCSC Ensembl
Outer	chr3:102965231..102965660	hg18	UCSC Ensembl

Cytoband

3q12.3

Allele length

Assembly	Allele length
hg38	430
hg19	430
hg18	430

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4841740

Samples

NA18507

Known Genes

CEP97

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)

esv2350180

Frequency

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