Variant Details

Variant: esv2117994

Internal ID

7442419

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:22897655..22897930	hg38	UCSC Ensembl
Outer	chr16:22897474..22898127	hg38	UCSC Ensembl
Inner	chr16:22908976..22909251	hg19	UCSC Ensembl
Outer	chr16:22908795..22909448	hg19	UCSC Ensembl
Inner	chr16:22816477..22816752	hg18	UCSC Ensembl
Outer	chr16:22816296..22816949	hg18	UCSC Ensembl

Cytoband

16p12.1

Allele length

Assembly	Allele length
hg38	654
hg19	654
hg18	654

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4935812

Samples

NA18507

Known Genes

HS3ST2

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)

esv2117994

Frequency

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