Variant Details

Variant: esv2059419

Internal ID

7730530

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:78632178..78632263	hg38	UCSC Ensembl
Outer	chr15:78632014..78632437	hg38	UCSC Ensembl
Inner	chr15:78924520..78924605	hg19	UCSC Ensembl
Outer	chr15:78924356..78924779	hg19	UCSC Ensembl
Inner	chr15:76711575..76711660	hg18	UCSC Ensembl
Outer	chr15:76711411..76711834	hg18	UCSC Ensembl

Cytoband

15q25.1

Allele length

Assembly	Allele length
hg38	424
hg19	424
hg18	424

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4787973

Samples

NA18507

Known Genes

CHRNB4

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)

esv2059419

Frequency

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