Variant Details

Variant: essv5000194

Internal ID

7585826

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:181779803..181780052	hg38	UCSC Ensembl
Outer	chr3:181779605..181780229	hg38	UCSC Ensembl
Inner	chr3:181497591..181497840	hg19	UCSC Ensembl
Outer	chr3:181497393..181498017	hg19	UCSC Ensembl
Inner	chr3:182980285..182980534	hg18	UCSC Ensembl
Outer	chr3:182980087..182980711	hg18	UCSC Ensembl

Cytoband

3q26.33

Allele length

Assembly	Allele length
hg38	625
hg19	625
hg18	625

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2331390

Supporting Variants

Samples

NA18507

Known Genes

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)

essv5000194

Frequency

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