Variant Details

Variant: esv1935678

Internal ID

7614967

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:88940742..88943315	hg38	UCSC Ensembl
Outer	chr15:88940545..88943503	hg38	UCSC Ensembl
Inner	chr15:89483973..89486546	hg19	UCSC Ensembl
Outer	chr15:89483776..89486734	hg19	UCSC Ensembl
Inner	chr15:87284977..87287550	hg18	UCSC Ensembl
Outer	chr15:87284780..87287738	hg18	UCSC Ensembl

Cytoband

15q26.1

Allele length

Assembly	Allele length
hg38	2959
hg19	2959
hg18	2959

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4840597

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)

esv1935678

Frequency

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