Variant Details

Variant: essv4501611

Internal ID

6740557

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:114303508..114303646	hg38	UCSC Ensembl
Outer	chr3:114303387..114303773	hg38	UCSC Ensembl
Inner	chr3:114022355..114022493	hg19	UCSC Ensembl
Outer	chr3:114022234..114022620	hg19	UCSC Ensembl
Inner	chr3:115505045..115505183	hg18	UCSC Ensembl
Outer	chr3:115504924..115505310	hg18	UCSC Ensembl

Cytoband

3q13.31

Allele length

Assembly	Allele length
hg38	387
hg19	387
hg18	387

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2043603

Supporting Variants

Samples

NA18507

Known Genes

TIGIT

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)

essv4501611

Frequency

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