Variant Details

Variant: esv2365778

Internal ID

7690203

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:13200613..13202636	hg38	UCSC Ensembl
Outer	chr16:13200440..13202815	hg38	UCSC Ensembl
Inner	chr16:13294470..13296493	hg19	UCSC Ensembl
Outer	chr16:13294297..13296672	hg19	UCSC Ensembl
Inner	chr16:13201971..13203994	hg18	UCSC Ensembl
Outer	chr16:13201798..13204173	hg18	UCSC Ensembl

Cytoband

16p13.12

Allele length

Assembly	Allele length
hg38	2376
hg19	2376
hg18	2376

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4673574

Samples

NA18507

Known Genes

SHISA9

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)

esv2365778

Frequency

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