Variant Details

Variant: esv2332259

Internal ID

8003370

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:99886245..99886291	hg38	UCSC Ensembl
Outer	chr3:99886060..99886503	hg38	UCSC Ensembl
Inner	chr3:99605089..99605135	hg19	UCSC Ensembl
Outer	chr3:99604904..99605347	hg19	UCSC Ensembl
Inner	chr3:101087779..101087825	hg18	UCSC Ensembl
Outer	chr3:101087594..101088037	hg18	UCSC Ensembl

Cytoband

3q12.1

Allele length

Assembly	Allele length
hg38	444
hg19	444
hg18	444

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4852987

Samples

NA18507

Known Genes

CMSS1, FILIP1L, MIR548G

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)

esv2332259

Frequency

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